Velo-cardio-facial Syndrome & DiGeorge Syndrome Coding

From what I have researched, Velo-cardio-facial Syndrome and DiGeorge Syndrome are synonymous terms:

"...over 90 percent of all patients with features of DiGeorge, Shprintzen, and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11. In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names..." (chw.org)

There are two codes in 3M that could be coded: Q9381 "Velo-cardio-facial syndrome" & D821 "Di George's Syndrome"

  • Does your institution code one or both of these diagnoses for a pt?

Comments

  • When ever I see DiGeorge Syndrome, I look to see if there is any chromosome 22q.11.2 deletion noted in the chart.  I will also look for any genetic testing on file, and will use those findings to query.  In addition, I look for any congenital heart defects or endocrine problems.    We only code either the DiGeorge or the velo-cardio-facial syndrome, but not both.  If there is documentation of the 22q11.2 deletion then we code the velo-cardio-facial syndrome.  Most of our congenital hearts patients with DiGeorge will be with the 22q11.2 deletion, the velo-cardio-facial syndrome.  As you probably already know, there is a big difference as the velo-cardio-facial syndrome is an MCC where as DiGeorge is a CC. 

    Hope this helps. 

    Karen Bridgeman

    Medical University of South Carolina   

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