DiGeorge syndrome

Term ID

DOID:11198

Synonyms

• 22q11.2 deletion syndrome
• DiGeorge sequence
• DiGeorge's syndrome
• Pharyngeal pouch syndrome

Definition

A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (2)

References

• GARD:10299
• ICD10CM:D82.1
• ICD9CM:279.11
• MESH:D004062
• NCI:C2989
• OMIM:188400
• SNOMEDCT_US_2023_03_01:190991007
• UMLS_CUI:C0012236

Ontology

Human Disease   ( DOID:11198 )