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nezelof syndrome

Wikipedia Summary

Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase...
Related Codes (1)
Code
Description
Billable
Details
D81.4Nezelof's syndrome

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