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...
Subscribe or sign in to view the full article.
Article Overview
This article covers Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, and discusses its genetic basis, common clinical characteristics, diagnostic approach, and the reason a new diagnosis code was created. It is intended for readers who need to understand the coding relevance of this rare genetic condition, including coders, clinicians, and researchers following diagnostic classification updates.
Why This Topic Matters
The article matters because it connects a rare genetic syndrome to a newly created diagnosis code used for tracking, clinical trials, and research. It helps readers recognize the broader clinical context and why precise diagnosis classification is important.
What You Will Learn
- What Phelan-McDermid syndrome is
- How the condition is described clinically
- How the diagnosis is typically confirmed
- Why the creation of a new diagnosis code is significant
Who Should Read This
- Medical coders
- Clinicians
- Genetic counselors
- Researchers
- Clinical trial staff
Codes Discussed
Subscribe or sign in to view the full article.
Quick, Current, Complete - www.findacode.com