LD44.N0Ангилал

CATCH 22 phenotype

Тодорхойлолт

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.

Оруулагдах онош Inclusions

  • Pharyngeal pouch syndrome
  • DiGeorge syndrome
  • Velocardiofacial syndrome

Индексийн нэр томьёо Index terms · 21

CATCH 22 phenotypeConotruncal anomalies face syndromeVelocardiofacial syndromeShprintzen syndromeSedlackova syndrome22q11 deletion syndromeDiGeorge syndromeDiGeorge sequenceCATCH 22Monosomy 22q11Pharyngeal pouch syndromeagenesis of the parathyroid and thymus glandsbranchial arch syndromethird and fourth pharyngeal arch syndromethird and fourth pharyngeal pouch syndromethymic hypoplasia syndromethymic-parathyroid aplasiaimmunodeficient thymic aplasiaimmunodeficient thymus aplasiathymic alymphoplasiathymic aplasia or hypoplasia with immunodeficiency

Монгол орчуулга хянагдаж байгаа тул англи эхийг харуулж байна. Эх сурвалж: WHO ICD-11 (MMS) · WHO сайтад харах ↗