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primary ciliary dyskinesia

Go to external page 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 ]

Synonyms: PCD ciliary motility disorder Kartagener syndrome Kartagener's syndrome immotile ciliary syndrome primary ciliary dyskinesia

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10069713 (Orphanet:244/e)
  • OMIMPS:244400 (MONDO:equivalentTo)
  • NORD:1605 (MONDO:NORD)
  • UMLS:C0008780 (MONDO:equivalentTo)
  • NCIT:C84797 (MONDO:equivalentTo)
  • MESH:D002925 (MONDO:equivalentTo)
  • DOID:0050144 (MONDO:equivalentTo)
  • Orphanet:244 (MONDO:equivalentTo)
  • SCTID:86204009 (MONDO:equivalentTo)
  • DOID:9562 (MONDO:equivalentTo)
  • MESH:D007619 (MONDO:equivalentTo)
  • SCTID:42402006 (MONDO:equivalentTo)
  • GARD:4484 (Orphanet:244)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10069713

comment

Editor note: we deliberately merge two MESHes here

exactMatch

http://www.orpha.net/ORDO/Orphanet_244

http://linkedlifedata.com/resource/umls/id/C0008780

http://identifiers.org/mesh/D002925

http://purl.obolibrary.org/obo/DOID_0050144

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 related synonym

ciliary dyskinesia primary

bronchiectasis, chronic sinusitis and dextrocardia syndrome

Dextrocardia bronchiectasis and sinusitis

ICS

Dextrocardia-bronchiectasis-sinusitis syndrome

Immotile cilia syndrome, Kartagener type

Primary ciliary dyskinesia and situs inversus

Siewert syndrome

Primary ciliary dyskinesia, Kartagener type

id

MONDO:0016575

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0016575