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DiGeorge Syndrome

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.

Year introduced: 1991(1977)

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Tree Number(s): C05.660.207.103.500, C14.240.400.021.500, C14.280.400.044.500, C15.604.451.249.500, C16., C16.131.240.400.021.500, C16., C16.131.482.249.500, C16.131.621.207.103.500, C16.320.180.019.500, C19.642.482.500.500

MeSH Unique ID: D004062

Entry Terms:

  • 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)

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