D82.1

Applicable To

• Pharyngeal pouch syndrome

• Thymic alymphoplasia

• Thymic aplasia or hypoplasia with immunodeficiency

Approximate Synonyms

• Digeorge sequence

• Digeorge syndrome

• Digeorges syndrome

Clinical Information

• 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.

• A developmental defect of derivatives of the third and fourth pharyngeal pouches, almost always associated with agenesis or hypoplasia of the thymus and parathyroid gland, characteristic facies with downslanting palpebral fissures and ocular and nasal anomalies, hypocalcemia, cardiovascular anomalies, immunodeficiency, and other variable abnormalities. Patients who survive infancy are usually mentally retarded. Digeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity. Conditions associated with the development of digeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and zellweger syndrome. Major features of this syndrome have been designated by the newcastle upon tyne group catch 22 cardiac, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia), the number 22 indicating deletion of the long arm of chromosome 22 22q11).

• Branchial arch defects with craniofacial abnormalities, hearing loss, short stature, and learning difficulty.

• Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the thymus and parathyroid glands resulting in t-cell immunodeficiency, hypocalcemia, defects in the outflow tract of the heart, and craniofacial anomalies.

• Congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.

Details

• D82.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM D82.1 became effective on October 1, 2022.

• This is the American ICD-10-CM version of D82.1 – other international versions of ICD-10 D82.1 may differ.