DiGeorge syndrome
ICD-10 Code
D82.1
DiGeorge syndrome
Definition
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Also known as DGS, DGS1, Di-George syndrome, DiGeorge anomaly, DiGeorge syndrome, DiGeorge syndrome type 1, DiGeorge's syndrome, pharyngeal pouch syndrome — per MONDO