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pten hamartoma tumor syndrome

Medical Definition

A rare, autosomal dominant hereditary syndrome caused by germline mutation in the pten gene. it manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma.
Related Codes (1)
Code
Description
Billable
Details
Q85.81PTEN hamartoma tumor syndrome

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