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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