Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

  • Ayuda
mapear
anotar
descargar

Concept information

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

Término preferido

22q11 Deletion Syndrome  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos específicos

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-CWFFHX6H-P

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 25/6/10