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Congenital pulmonary lymphangiectasia

Disease definition

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.

ORPHA:2414

  • Synonym(s):
    • Pulmonary lymphangiomatosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q33.8
  • OMIM: 265300
  • UMLS: C0265800  C1849554
  • MeSH: C537727
  • GARD: 9900
  • MedDRA: -

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