National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

22q11.2 Deletion Syndrome

Synonyms

22q11 deletion

22q Deletion Syndrome(s)

DiGeorge Anomaly

DiGeorge Syndrome

Shprintzen syndrome

DiGeorge Syndrome Type 1

Shprintzen Syndrome

22q11.2 Deletion Syndrome

DiGeorge Sequence

DiGeorge's Syndrome

DiGeorge syndrome

CATCH-22

DGS1

FACES

Definitions

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2989

ALT_DEFINITION

A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism.

A congenital anomaly characterized by partial deletion of the long arm of chromosome 22.

code

C2989

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

Cellosaurus

ACC/AHA

NICHD

DEFINITION

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

FULL_SYN

22q11 deletion

22q Deletion Syndrome(s)

DiGeorge Anomaly

DiGeorge Syndrome

Shprintzen syndrome

DiGeorge Syndrome Type 1

Shprintzen Syndrome

22q11.2 Deletion Syndrome

DiGeorge Sequence

DiGeorge's Syndrome

DiGeorge syndrome

CATCH-22

DGS1

FACES

label

22q11.2 Deletion Syndrome

Legacy Concept Name

DiGeorge_s_Syndrome

Preferred_Name

22q11.2 Deletion Syndrome

prefixIRI

Thesaurus:C2989

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0012236

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27872

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