Počet záznamov: 1
Pierre Robinov syndróm
SYS d010855 LBL 00000cz--a2200000n--4500 005 20250606214255.5 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C05.500.460.606 065 $a C05.660.207.540.460.606 065 $a C07.320.440.606 065 $a C07.650.500.460.606 065 $a C16.131.621.207.540.460.606 065 $a C16.131.850.500.460.606 066 $a 01 $c 03 150 $a Pierre Robinov 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 Pierre Robinova sekvencia $2 slo 450 $w v $a micrognatia-glossoptosis congenitalis $2 slo 450 $w v $a Robinova sekvencia $2 slo 450 $w v $a Robinov syndróm $2 slo 450 $w v $a glosoptóza, mikrognatia a rázštep podnebia $2 slo 550 $7 sllk_us_auth*d050030 $Y Andersen Syndrome $w p $a Andersenov syndróm 550 $7 sllk_us_auth*d055036 $Y Campomelic Dysplasia $w p $a dysplázia kampomelická 550 $7 sllk_us_auth*d055758 $Y SOX9 Transcription Factor $w p $a faktor transkripčný SOX9 550 $7 sllk_us_auth*d050030 $Y Andersen Syndrome $w b $a Andersenov syndróm 550 $7 sllk_us_auth*d055036 $Y Campomelic Dysplasia $w b $a dysplázia kampomelická 550 $7 sllk_us_auth*d055758 $Y SOX9 Transcription Factor $w b $a faktor transkripčný SOX9 665 $a 65(64) $2 eng 680 9-
$i Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. $2 eng 680 $a named for French dentist Pierre Robin: Robin is his surname; note: no hyphen $2 eng 750 -2
$a Pierre Robin Syndrome $2 eng 980 $x M
Počet záznamov: 1