ICD-11 classes
04 Diseases of the immune system
Primary immunodeficiencies
4A01 — Primary immunodeficiencies due to disorders of adaptive...
4A01.3 — Other well-defined immunodeficiency syndromes due to...
4A01.30 — Immunodeficiency due to defects of the thymus
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 #4040
- Hypoparathyroidism due to impaired parathyroid hormone secretion #4317
- Chromosomal disorders affecting the skin #16044
- Syndromic genetic deafness #23463
- Deletions of chromosome 22 #23676
- Conditions with disorders of intellectual development as a relevant clinical feature #23735