loading...| Preferred Name |
primary ciliary dyskinesia |
|
| Synonyms |
PCD ciliary motility disorder Kartagener syndrome Kartagener's syndrome immotile ciliary syndrome bronchiectasis, chronic sinusitis and dextrocardia syndrome kartageners syndrome ciliary dyskinesia primary Primary ciliary dyskinesia and situs inversus Dextrocardia-bronchiectasis-sinusitis syndrome Siewert syndrome ICS Primary ciliary dyskinesia, Kartagener type Dextrocardia bronchiectasis and sinusitis Immotile cilia syndrome, Kartagener type |
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| Definitions |
Editor note: we deliberately merge two MESHes here Primary ciliary dyskinesia (PCD) is 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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016575 |
|
| comment |
Editor note: we deliberately merge two MESHes here |
|
| closeMatch | ||
| database_cross_reference |
SCTID:86204009 GARD:0004484 MESH:D002925 UMLS:C0008780 NCIT:C84797 DOID:0050144 Orphanet:244 MESH:D007619 DOID:9562 OMIMPS:244400 MedDRA:10069713 GARD:0006815 SCTID:42402006 ICD10:Q34.8 |
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| exactMatch |
http://identifiers.org/snomedct/42402006 http://identifiers.org/snomedct/86204009 http://identifiers.org/meddra/10069713 http://purl.obolibrary.org/obo/NCIT_C84797 http://www.orpha.net/ORDO/Orphanet_244 http://purl.obolibrary.org/obo/DOID_9562 http://purl.obolibrary.org/obo/NCIT_C84638 http://purl.obolibrary.org/obo/DOID_0050144 http://linkedlifedata.com/resource/umls/id/C0008780 |
|
| has exact synonym |
PCD ciliary motility disorder Kartagener syndrome Kartagener's syndrome immotile ciliary syndrome |
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| has modifier | ||
| has related synonym |
bronchiectasis, chronic sinusitis and dextrocardia syndrome kartageners syndrome ciliary dyskinesia primary Primary ciliary dyskinesia and situs inversus Dextrocardia-bronchiectasis-sinusitis syndrome Siewert syndrome ICS Primary ciliary dyskinesia, Kartagener type Dextrocardia bronchiectasis and sinusitis Immotile cilia syndrome, Kartagener type |
|
| id |
MONDO:0016575 |
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| imported from | ||
| in_subset | ||
| label |
primary ciliary dyskinesia |
|
| notation |
MONDO:0016575 |
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| prefLabel |
primary ciliary dyskinesia |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
Primary ciliary dyskinesia (PCD) is 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). |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005308 |