respiratory system disorder familial primary pulmonary hypoplasia https://github.com/monarch-initiative/mondo/issues/6876 https://www.malacards.org/card/pulmonary_hypoplasia_primary Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. Orphanet:2257 icd11.foundation:1778475393 pulmonary hypoplasia, primary ICD9:748.5 MONDO:0009936 OMIM:265430 lung agenesis MEDGEN:141589 primary pulmonary hypoplasia GARD:0016591 UMLS:C0456891 SCTID:277656005 disorder of development or morphogenesis