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syndróm delécie 22q11
SYS d058165 LBL 00000nx--j2200000---45-- 005 20240119200637.8 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a syndróm delécie 22q11 $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 300 1-
$a Chromosome Deletion (1997-2010) $8 eng 300 1-
$a Chromosomes, Human, Pair 22 (1997-2010) $8 eng 330 1-
$a Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. $8 eng 686 $a C05.660.207.103 686 $a C14.240.400.021 686 $a C14.280.400.044 686 $a C15.604.451.249 686 $a C16.131.077.019 686 $a C16.131.240.400.021 686 $a C16.131.260.019 686 $a C16.131.482.249 686 $a C16.131.621.207.103 686 $a C16.320.180.019 686 $a C19.642.482.500 750 $a 22q11 Deletion Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20111004 980 $x M
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