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Hemic and Lymphatic Diseases > Lymphatic Diseases > Lymphatic Abnormalities > 22q11 Deletion Syndrome > DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Lymphatic Abnormalities > 22q11 Deletion Syndrome > DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > 22q11 Deletion Syndrome > DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > 22q11 Deletion Syndrome > DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > 22q11 Deletion Syndrome > DiGeorge Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > 22q11 Deletion Syndrome > DiGeorge Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > 22q11 Deletion Syndrome > DiGeorge Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > 22q11 Deletion Syndrome > DiGeorge Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > 22q11 Deletion Syndrome > DiGeorge Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > 22q11 Deletion Syndrome > DiGeorge Syndrome
Endocrine System Diseases > Parathyroid Diseases > Hypoparathyroidism > 22q11 Deletion Syndrome > DiGeorge Syndrome

Preferred term

DiGeorge Syndrome  

Type

  • mesh:Descriptor

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.

Broader concept

Related concepts

Entry terms

  • Autosomal Dominant Opitz G-Bbb Syndrome
  • Catch22
  • DiGeorge Anomaly
  • DiGeorge Sequence
  • Familial Third and Fourth Pharyngeal Pouch Syndrome
  • Hypoplasia of Thymus and Parathyroids
  • Pharyngeal Pouch Syndrome
  • Third and Fourth Pharyngeal Pouch Syndrome
  • Thymic Aplasia Syndrome

Allowable Qualifier(s)

In other languages

  • Syndrome de DiGeorge

    French

  • Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome
  • CATCH 22
  • SDG (Syndrome de DiGeorge)
  • Syndrome de délétion du chromosome 22q11

URI

http://data.loterre.fr/ark:/67375/JVR-S9J3FTM5-B

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RDF/XML TURTLE JSON-LD Created 4/16/76, last modified 7/8/13