Počet záznamov: 1
hypofosfatázia
SYS d007014 LBL 00000nz--a2200000o--4500 005 20250606214724.4 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.618.482 065 $a C18.452.648.618.482 066 $a 01 $c 03 150 $a hypofosfatázia $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*d000469 $Y Alkaline Phosphatase $w b $a fosfatáza alkalická 665 $a 72(66) $2 eng 680 9-
$i A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) $2 eng 680 $a defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $2 eng 750 -2
$a Hypophosphatasia $2 eng 980 $x M
Počet záznamov: 1