Preferred Label : 22q11.2 duplication syndrome;
ICD-11 definition : 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad
clinical spectrum and a duplication of the region that is deleted in patients with
DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication
syndrome. The clinical presentation of patients is extremely variable and shares features
with 22q11.2 deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities,
velopharyngeal insufficiency with or without cleft palate, and ranging from multiple
defects to mild learning difficulties with some individuals being essentially normal.;
ICD-11 synonym : 22q11.2 microduplication syndrome; Trisomy 22q11.2;
Origin ID : 2061812554;
UMLS CUI : C2675369;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad
clinical spectrum and a duplication of the region that is deleted in patients with
DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication
syndrome. The clinical presentation of patients is extremely variable and shares features
with 22q11.2 deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities,
velopharyngeal insufficiency with or without cleft palate, and ranging from multiple
defects to mild learning difficulties with some individuals being essentially normal.
