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Congenital pulmonary valvar stenosis

Disease definition

A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).


Classification level: Disorder
  • Synonym(s):
    • Congenital stenosis of pulmonary valve
  • Prevalence: Unknown
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: Q22.1
  • ICD-11: LA8A.00
  • OMIM: 265500
  • UMLS: C0162164
  • MeSH: -
  • GARD: -
  • MedDRA: 10037451

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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