CATCH 22 phenotype (Q39701)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD44.N0 |
||
| English | CATCH 22 phenotype |
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. |
Statements
CID11:LD44.N0
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dki-india-LD44.N0
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Concluído
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