Number of the records: 1
hypofosfatázia
Record number d007014 Date 06.06.2025 Type M Topical term hypofosfatázia See also (Later heading) fosfatáza alkalická
UDC C16.320.565.618.482C18.452.648.618.482 Note 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) 
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Number of the records: 1