AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2023 Issue 4; New/Revised ICD-10-CM Codes

Phelan-McDermid Syndrome

Code Q93.52, Phelan-McDermid syndrome, has been created to identify Phelan-McDermid syndrome (PMS). PMS, also known as 22q13.3 deletion syndrome, is a rare genetic condition caused by a deletion of the terminal end of chromosome 22, or by a ring chromosome 22, or a mutation or deletion involving the Shank3 gene. PMS can occur sporadically, or it may be inherited from a parent who carries a similar genetic makeup. The signs and symptoms of PMS vary and may cause a range of medical, intellectual, and behavioral issues. PMS is characterized by low muscle tone in the newborn...

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