A patient is admitted to the hospital and diagnosed with DiGeorge syndrome with 22Q11.2 deletion and velo-cardio-facial syndrome. What are the appropriate ICD-10-CM codes to accurately capture these syndromes?
Assign codes Q93.81, Velo-cardio-facial syndrome, and D82.1, Di George syndrome, when the documentation supports both Velo-cardio-facial syndrome and DiGeorge syndrome. Sequencing of the principal diagnosis is dependent on the focus of care.
DiGeorge syndrome, also referred to as 22q11.2 deletion syndrome, was originally recognized as a primary immunodeficiency disease, with hypoplasia or aplasia of the thymus, accompanied somewhat variably by other findings. Velo-cardio-facial syndrome was defined based on findings of cleft palate, cardiac defects, and unusual facial appearance. Both syndromes were found to involve a deletion in the same region, on chromosome 22 at position 22q11.2. Thus, DiGeorge syndrome and velo-cardio-facial syndrome may now be considered synonymous with 22q11.2 deletion syndrome. While the 22q11.2 deletion is responsible for velo-cardio-facial syndrome and Di George syndrome, there is wide phenotypic variability for this kind of deletion. Since findings typical of both conditions may not always be present, the specific associated problems may be coded separately.