MeSH Browser

MeSH Heading: DiGeorge Syndrome
Tree 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
Unique ID: D004062
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D004062
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.
Entry Term(s): 22q11.2 Deletion Syndrome; 22q11.2DS; Autosomal Dominant Opitz G-Bbb Syndrome; Catch22; Conotruncal Anomaly Face Syndrome; Conotruncal Anomaly Face Syndrome (CTAF); Deletion 22q11.2 Syndrome; DiGeorge Anomaly; DiGeorge Sequence; Familial Third and Fourth Pharyngeal Pouch Syndrome; Hypoplasia of Thymus and Parathyroids; Pharyngeal Pouch Syndrome; Sedlackova Syndrome; Shprintzen Syndrome; Shprintzen VCF Syndrome; Third and Fourth Pharyngeal Pouch Syndrome; Thymic Aplasia Syndrome; VCF Syndrome; Velo-Cardio-Facial Syndrome; Velocardiofacial Syndrome
NLM Classification #: QS 675
Previous Indexing: Parathyroid Glands (1966-1976); Thymus Gland (1966-1976)
See Also: Claudin-5
Public MeSH Note: 91; was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
History Note: 91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
Date Established: 1991/01/01
Date of Entry: 1976/04/16
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]

Cardiovascular Diseases [C14]
- 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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - 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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Chromosome Disorders [C16.131.260]
    - 22q11 Deletion Syndrome [C16.131.260.019]
      - DiGeorge Syndrome [C16.131.260.019.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Lymphatic Abnormalities [C16.131.482]
    - 22q11 Deletion Syndrome [C16.131.482.249]
      - DiGeorge Syndrome [C16.131.482.249.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - 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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- 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]

DiGeorge Syndrome Preferred

Concept UI: M0006369
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.
Terms: DiGeorge Syndrome Preferred Term
Term UI T012337
Date01/01/1999
LexicalTag EPO
ThesaurusID; DiGeorge Anomaly
Term UI T764158
Date01/14/2010
LexicalTag EPO
ThesaurusID; DiGeorge Sequence
Term UI T764159
Date01/14/2010
LexicalTag EPO
ThesaurusID; Familial Third and Fourth Pharyngeal Pouch Syndrome
Term UI T764160
Date01/14/2010
LexicalTag NON
ThesaurusID; Hypoplasia of Thymus and Parathyroids
Term UI T614250
Date10/19/2004
LexicalTag NON
ThesaurusID; Pharyngeal Pouch Syndrome
Term UI T764161
Date01/14/2010
LexicalTag NON
ThesaurusID; Third and Fourth Pharyngeal Pouch Syndrome
Term UI T764162
Date01/14/2010
LexicalTag NON
ThesaurusID; Thymic Aplasia Syndrome
Term UI T764163
Date01/14/2010
LexicalTag NON
ThesaurusID; Catch22
Term UI T840751
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Autosomal Dominant Opitz G-Bbb Syndrome
Term UI T843595
Date05/03/2013
LexicalTag NON
ThesaurusID GHR (2014)

Velocardiofacial Syndrome Narrower

Concept UI: M0474269
Terms: Velocardiofacial Syndrome Preferred Term
Term UI T614251
Date10/19/2004
LexicalTag NON
ThesaurusID; 22q11.2 Deletion Syndrome
Term UI T824232
Date06/20/2012
LexicalTag NON
ThesaurusID; Sedlackova Syndrome
Term UI T824231
Date06/20/2012
LexicalTag EPO
ThesaurusID; Shprintzen Syndrome
Term UI T824229
Date06/20/2012
LexicalTag EPO
ThesaurusID; Shprintzen VCF Syndrome
Term UI T824230
Date06/20/2012
LexicalTag EPO
ThesaurusID; VCF Syndrome
Term UI T824228
Date06/20/2012
LexicalTag ABX
ThesaurusID OMIM (2013); Velo-Cardio-Facial Syndrome
Term UI T614252
Date10/19/2004
LexicalTag NON
ThesaurusID; Deletion 22q11.2 Syndrome
Term UI T840753
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); 22q11.2DS
Term UI T843594
Date05/03/2013
LexicalTag NON
ThesaurusID GHR (2014)

Conotruncal Anomaly Face Syndrome Related

DiGeorge Syndrome MeSH Descriptor Data 2025