Number of the records: 1
Downov syndróm
SYS d004314 LBL 00000nz--a2200000o--4500 005 20250606213605.0 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.597.606.360.220 065 $a C16.131.077.327 065 $a C16.131.260.260 065 $a C16.320.180.260 066 $a 01 $c 03 150 $a Downov 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 Mongolism $2 eng 450 $w v $a Trisomy 21 $2 eng 450 $w v $a Downova choroba $2 slo 450 $w v $a mongolizmus $2 slo 450 $w v $a trizómia 21 $2 slo 665 $a 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 $2 eng 680 9-
$i A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) $2 eng 750 -2
$a Down Syndrome $2 eng 980 $x M
Number of the records: 1