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LD44.N0 CATCH 22 phenotype

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties.

inclusions

• Pharyngeal pouch syndrome
• DiGeorge syndrome
• Velocardiofacial syndrome

synonyms

• CATCH 22 phenotype
• Conotruncal anomalies face syndrome
• Velocardiofacial syndrome
• Shprintzen syndrome
• Sedlackova syndrome
• 22q11 deletion syndrome
• DiGeorge syndrome
• DiGeorge sequence
• CATCH 22
• Monosomy 22q11
• Pharyngeal pouch syndrome
• agenesis of the parathyroid and thymus glands
• branchial arch syndrome
• third and fourth pharyngeal arch syndrome
• third and fourth pharyngeal pouch syndrome
• thymic hypoplasia syndrome
• thymic-parathyroid aplasia
• immunodeficient thymic aplasia
• immunodeficient thymus aplasia
• thymic alymphoplasia
• thymic aplasia or hypoplasia with immunodeficiency

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