CATCH 22 phenotype

Description

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.

Index terms

CATCH 22 phenotype
22q11 deletion syndrome
CATCH 22

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

Inclusions

DiGeorge syndrome
Pharyngeal pouch syndrome
Velocardiofacial syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD44.NY – Other specified deletions of chromosome 22
LD44.NZ – Deletions of chromosome 22, unspecified

Foundation entity

CATCH 22 phenotype – http://id.who.int/icd/entity/1868156761

Part of: LD44.N: Deletions of chromosome 22 › LD44: Deletions of the autosomes › 20: Developmental anomalies