DiGeorge Syndrome

"DiGeorge Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID

D004062

MeSH Number(s)

C05.660.207.103.500

C14.240.400.021.500

C14.280.400.044.500

C15.604.451.249.500

C16.131.077.019.500

C16.131.240.400.021.500

C16.131.260.019.500

C16.131.482.249.500

C16.131.621.207.103.500

C16.320.180.019.500

C19.642.482.500.500

Concept/Terms

DiGeorge Syndrome

Velocardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

DiGeorge Anomaly

Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
22q11 Deletion Syndrome [C05.660.207.103]
DiGeorge Syndrome [C05.660.207.103.500]
Cardiovascular Diseases [C14]
Cardiovascular Abnormalities [C14.240]
Heart Defects, Congenital [C14.240.400]
22q11 Deletion Syndrome [C14.240.400.021]
DiGeorge Syndrome [C14.240.400.021.500]
Heart Diseases [C14.280]
Heart Defects, Congenital [C14.280.400]
22q11 Deletion Syndrome [C14.280.400.044]
DiGeorge Syndrome [C14.280.400.044.500]
Hemic and Lymphatic Diseases [C15]
Lymphatic Diseases [C15.604]
Lymphatic Abnormalities [C15.604.451]
22q11 Deletion Syndrome [C15.604.451.249]
DiGeorge Syndrome [C15.604.451.249.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
DiGeorge Syndrome [C16.131.077.019.500]
Cardiovascular Abnormalities [C16.131.240]
Heart Defects, Congenital [C16.131.240.400]
22q11 Deletion Syndrome [C16.131.240.400.021]
DiGeorge Syndrome [C16.131.240.400.021.500]
Chromosome Disorders [C16.131.260]
22q11 Deletion Syndrome [C16.131.260.019]
DiGeorge Syndrome [C16.131.260.019.500]
Lymphatic Abnormalities [C16.131.482]
22q11 Deletion Syndrome [C16.131.482.249]
DiGeorge Syndrome [C16.131.482.249.500]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]
22q11 Deletion Syndrome [C16.131.621.207.103]
DiGeorge Syndrome [C16.131.621.207.103.500]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
22q11 Deletion Syndrome [C16.320.180.019]
DiGeorge Syndrome [C16.320.180.019.500]
Endocrine System Diseases [C19]
Parathyroid Diseases [C19.642]
Hypoparathyroidism [C19.642.482]
22q11 Deletion Syndrome [C19.642.482.500]
DiGeorge Syndrome [C19.642.482.500.500]

Below are MeSH descriptors whose meaning is related to "DiGeorge Syndrome".

Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "DiGeorge Syndrome" by people in Harvard Catalyst Profiles by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publication.

Bar chart showing 106 publications over 27 distinct years, with a maximum of 11 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1995	1	0	1
1996	1	0	1
1997	1	2	3
1998	1	1	2
1999	1	0	1
2000	1	0	1
2001	2	0	2
2002	1	1	2
2003	1	0	1
2005	0	1	1
2006	5	2	7
2007	3	0	3
2009	0	1	1
2010	4	1	5
2011	3	3	6
2012	8	0	8
2013	9	0	9
2014	3	0	3
2015	4	1	5
2016	3	0	3
2017	10	0	10
2018	5	0	5
2019	5	0	5
2020	9	2	11
2021	3	0	3
2022	3	0	3
2023	4	0	4

Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.

Self-reported eye contact sensitivity and face processing in chromosome 22q11.2 deletion syndrome. J Clin Exp Neuropsychol. 2023 08; 45(6):570-578.

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. 2024 Mar; 230(3):368.e1-368.e12.

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Otorhinologic Disorders in 22q11.2 Deletion Syndrome. Otolaryngol Head Neck Surg. 2023 10; 169(4):1012-1019.

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Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome. Otolaryngol Head Neck Surg. 2023 04; 168(4):856-861.

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Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome. World J Biol Psychiatry. 2023 03; 24(3):260-265.

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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia. Nat Commun. 2022 06 27; 13(1):3690.

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Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood. J Pediatr Gastroenterol Nutr. 2022 08 01; 75(2):e8-e14.

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Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers. Transl Psychiatry. 2021 11 10; 11(1):580.

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Atypical attentional filtering of visual information in youth with chromosome 22q11.2 deletion syndrome as indexed by event-related potentials. Neuroimage Clin. 2021; 32:102877.

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Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Clin Chem. 2021 06 01; 67(6):827-828.

View in: PubMed

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