Number of the records: 1
syndróm delécie 22q11
SYS d058165 LBL 00000nz--a2200000n--4500 005 20250606220826.8 008 110101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C05.660.207.103 065 $a C14.240.400.021 065 $a C14.280.400.044 065 $a C15.604.451.249 065 $a C16.131.077.019 065 $a C16.131.240.400.021 065 $a C16.131.260.019 065 $a C16.131.482.249 065 $a C16.131.621.207.103 065 $a C16.320.180.019 065 $a C19.642.482.500 066 $a 01 $c 03 150 $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 $2 slo 665 $a 2011 $2 eng 665 $a Chromosome Deletion (1997-2010) $2 eng 665 $a Chromosomes, Human, Pair 22 (1997-2010) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a 22q11 Deletion Syndrome $2 eng 980 $x M
Number of the records: 1