E83.39
Applicable To
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Acid phosphatase deficiency
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Hypophosphatasia
Approximate Synonyms
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Hyperphosphatemia
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Hyperphosphatemia high phosphate level)
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Hypophosphatasia
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Hypophosphatemia
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Hypophosphatemia low phosphorus level)
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Rickets, hypophosphatasia
Clinical Information
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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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A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase tnsalp) activity. It is characterized by low activity of tnsalp in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.
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Genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; 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.
Details
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E83.39 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
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The 2023 edition of ICD-10-CM E83.39 became effective on October 1, 2022.
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This is the American ICD-10-CM version of E83.39 – other international versions of ICD-10 E83.39 may differ.