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

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.
Preferred term	DiGeorge Syndrome
Entry term(s)	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 Syndrome, DiGeorge Third and Fourth Pharyngeal Pouch Syndrome Thymic Aplasia Syndrome

Velocardiofacial Syndrome - Narrower

Concept UI	M0474269
Preferred term	Velocardiofacial Syndrome
Entry term(s)	22q11.2 Deletion Syndrome 22q11.2DS Deletion 22q11.2 Syndrome Deletion Syndrome, 22q11.2 Sedlackova Syndrome Shprintzen Syndrome Shprintzen VCF Syndrome Syndrome, Sedlackova Syndrome, Shprintzen Syndrome, VCF Syndrome, Velo-Cardio-Facial Syndrome, Velocardiofacial VCF Syndrome Velo Cardio Facial Syndrome Velo-Cardio-Facial Syndrome

Conotruncal Anomaly Face Syndrome - Related but not broader or narrower

Concept UI	M0537457
Preferred term	Conotruncal Anomaly Face Syndrome
Entry term(s)	Conotruncal Anomaly Face Syndrome (CTAF)