Related MeSH Hierarchy (11)
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » 22q11 Deletion Syndrome
Diseases [C] » Cardiovascular Diseases [C14] » Cardiovascular Abnormalities » Heart Defects, Congenital » 22q11 Deletion Syndrome
Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Heart Defects, Congenital » 22q11 Deletion Syndrome
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Lymphatic Diseases » Lymphatic Abnormalities » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Cardiovascular Abnormalities » Heart Defects, Congenital » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Lymphatic Abnormalities » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Musculoskeletal Abnormalities » Craniofacial Abnormalities » 22q11 Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » 22q11 Deletion Syndrome
Diseases [C] » Endocrine System Diseases [C19] » Parathyroid Diseases » Hypoparathyroidism » 22q11 Deletion Syndrome
Description
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. MeSH
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Subtype Terms (1)
DiGeorge Syndrome
19 drugs (18 approved, 1 experimental)
Phase 4 Indicated Drugs (1)
Phase 2 Indicated Drugs (4)
Organization Involved with Phase 3 Indications (3)
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UMLS Data
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