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hypofosfatázia
Č. záznamu d007014 Dátum 06.06.2025 Typ M Tematický termín hypofosfatázia Pozri tiež (Novšie záhlavie) fosfatáza alkalická
MDT C16.320.565.618.482C18.452.648.618.482 Poznámka 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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Počet záznamov: 1