Svensk definition
Ett medfött syndrom med avsaknad av tymus och bisköldkörtlarna, vilket leder till nedsatt cellulär immunitet. Immunglobulinnivåerna är normala.
DiGeorge Syndrome
DiGeorges syndrom
Engelsk definition
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.
Svenska synonymer
22q11-deletionssyndrom — Velokardiofacialt syndrom — CATCH 22
Engelska synonymer
Syndrome, DiGeorge — DiGeorge Sequence — Familial Third and Fourth Pharyngeal Pouch Syndrome — Autosomal Dominant Opitz G-Bbb Syndrome — Autosomal Dominant Opitz G Bbb Syndrome — Pharyngeal Pouch Syndrome — Third and Fourth Pharyngeal Pouch Syndrome — Thymic Aplasia Syndrome — Catch22 — DiGeorge Anomaly — Hypoplasia of Thymus and Parathyroids — Velocardiofacial Syndrome — Syndrome, Velocardiofacial — Sedlackova Syndrome — Syndrome, Sedlackova — Shprintzen Syndrome — Syndrome, Shprintzen — 22q11.2DS — VCF Syndrome — Syndrome, VCF — Velo-Cardio-Facial Syndrome — Syndrome, Velo-Cardio-Facial — Velo Cardio Facial Syndrome — Deletion 22q11.2 Syndrome — 22q11.2 Deletion Syndrome — Deletion Syndrome, 22q11.2 — Shprintzen VCF Syndrome — Conotruncal Anomaly Face Syndrome — Conotruncal Anomaly Face Syndrome (CTAF)