hereditary pulmonary alveolar proteinosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0012580


Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. [ Orphanet:264675 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0004582 (MONDO:equivalentTo)
  • OMIMPS:265120 (MONDO:equivalentTo)
  • Orphanet:264675 (OMIM:610913)
  • UMLS:C2931035 (Orphanet:264675)
  • SCTID:707442002 (MONDO:equivalentTo)
  • ICD10:J84.0 (Orphanet:264675)
  • MESH:C535832 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

definition

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.

exactMatch

http://identifiers.org/snomedct/707442002

http://identifiers.org/mesh/C535832

http://www.orpha.net/ORDO/Orphanet_264675

http://linkedlifedata.com/resource/umls/id/C2931035

has exact synonym

congenital PAP

hereditary pulmonary alveolar proteinosis

congenital pulmonary alveolar proteinosis

inborn error of pulmonary surfactant metabolism

has related synonym

sufactant metabolism dysfunction, pulmonary

pulmonary alveolar proteinosis, congenital

id

MONDO:0012580

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml