| umls-concept:C0012236 | skos:definition | CSP: congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.,MSH: 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.,NCI: 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.,JABL: Branchial arch defects with craniofacial abnormalities, hearing loss, short stature, and learning difficulty.,JABL: A developmental defect of derivatives of the third and fourth pharyngeal pouches, almost always associated with | lld:umls |
