ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD44 — Deletions of the autosomes
LD44.N — Deletions of chromosome 22
LD44.N0 — CATCH 22 phenotype
ICD-11 LD44.N0 — 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.
It includes 3 items.
- Pharyngeal pouch syndrome
- DiGeorge syndrome
- Velocardiofacial syndrome
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Immunodeficiency due to defects of the thymus #3567
- Immunodeficiency due to defects of the thymus #4040
- Hypoparathyroidism due to impaired parathyroid hormone secretion #4317
- Chromosomal disorders affecting the skin #16044
- Syndromic genetic deafness #23463
- Conditions with disorders of intellectual development as a relevant clinical feature #23735