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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).

ORPHA:3189

Classification level: Disorder
  • Synonym(s):
    • Congenital stenosis of pulmonary valve
  • Prevalence: 1-5 / 10 000
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q22.1
  • OMIM: 265500
  • UMLS: C0162164
  • MeSH: D011666
  • GARD: -
  • MedDRA: 10037451

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.