Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
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
Abnormalities, Multiple
22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Lymphatic Abnormalities
22q11 Deletion Syndrome
...
Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
22q11 Deletion Syndrome
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
22q11 Deletion Syndrome
Preferred term
DiGeorge Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Autosomal Dominant Opitz G Bbb Syndrome
- 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
Scope note
- 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.
History note
- 91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
In other languages
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Finnish
-
agenesis sive hypoplasia thymi cum immunodeficientia
-
alymphoplasia thymica
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aplasia sive hypoplasia thymi cum immunodeficientia
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di Georgen oireyhtymä
-
Di Georges syndrom
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DiGeorge
-
DiGeorgen syndrooma
-
gälfickssyndrom
-
kateenkorvan alymfoplasia
-
kateenkorvan aplasia
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kateenkorvan vajaakehittyneisyys ja immuunivajavuus
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kiduspussioireyhtymä
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kiduspussisyndrooma
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kidustaskuoireyhtymä
-
kidustaskusyndrooma
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svalgfickesyndrom
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syndroma DiGeorge
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tymisk alymfoplasi
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tyymuksen aplasia
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Swedish
-
22q11-deletionssyndrom
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CATCH 22
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Velokardiofacialt syndrom
URI
http://www.yso.fi/onto/mesh/D004062
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