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primary ciliary dyskinesia

^ http://purl.obolibrary.org/obo/MONDO_0016575

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). [ Orphanet:244 ]

Term info

database cross reference
  • MESH:D007619 (MONDO:equivalentTo)
  • DOID:0050144 (MONDO:equivalentTo)
  • OMIMPS:244400 (MONDO:equivalentTo)
  • MESH:D002925 (MONDO:equivalentTo)
  • NCIT:C84797 (MONDO:equivalentTo)
  • DOID:9562 (MONDO:equivalentTo)
  • UMLS:C0008780 (MONDO:equivalentTo)
  • MedDRA:10069713 (Orphanet:244/e)
  • SCTID:42402006 (MONDO:equivalentTo)
  • Orphanet:244 (MONDO:equivalentTo)
  • GARD:0004484 (MONDO:equivalentTo)
  • GARD:0006815 (MONDO:equivalentTo)
  • SCTID:86204009 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
PCD [ Orphanet:244 ]

abbreviation
ICS [ GARD:0004484 ]

closeMatch

http://identifiers.org/meddra/10069713

comment

Editor note: we deliberately merge two MESHes here

definition

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

exactMatch

http://linkedlifedata.com/resource/umls/id/C0008780, http://purl.obolibrary.org/obo/Orphanet_244, http://purl.obolibrary.org/obo/DOID_0050144, http://identifiers.org/mesh/D002925, http://purl.obolibrary.org/obo/NCIT_C84797, http://identifiers.org/snomedct/86204009, https://omim.org/phenotypicSeries/PS244400, http://identifiers.org/snomedct/42402006, http://identifiers.org/mesh/D007619, http://purl.obolibrary.org/obo/DOID_9562

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018395

has exact synonym

PCD, ciliary motility disorder, Kartagener syndrome, immotile ciliary syndrome, Kartagener's syndrome

has related synonym

ciliary dyskinesia primary, bronchiectasis, chronic sinusitis and dextrocardia syndrome, Dextrocardia bronchiectasis and sinusitis, ICS, Dextrocardia-bronchiectasis-sinusitis syndrome, Primary ciliary dyskinesia and situs inversus, Immotile cilia syndrome, Kartagener type, Siewert syndrome, Primary ciliary dyskinesia, Kartagener type

id

MONDO:0016575