ciliary motility disorders

Preferred Label : ciliary motility disorders;

MeSH definition : Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.;

MeSH synonym : dyskinesia, ciliary; disorder, ciliary motility; ciliary dyskinesias; ciliary dyskinesia; ciliary motility disorder;

CISMeF synonym : cilia syndrome, immotile; cilia syndromes, immotile; disorders, ciliary motility; dyskinesias, ciliary; syndrome, immotile cilia; syndromes, immotile cilia;

MeSH hyponym : Dyskinesia, Primary Ciliary; Primary Ciliary Dyskinesia; Immotile Cilia Syndrome; Immotile Cilia Syndromes;

Details

Origin ID

D002925;

UMLS CUI

C0008780;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Ciliary dyskinesia [HPO term]
- Immotile cilia syndrome [PASCAL descriptor]
- Primary ciliary dyskinesia [ICD-11 More detail]
CISMeF manual mappings
- Abnormal ciliary motility [HPO term]
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Ciliary Motility Defect [NCIt concept]
- Ciliary dyskinesia, primary, 1 [OMIM Phenotype]
- Immotile cilia syndrome [ACR pathology]
- Immotile cilia syndrome [MedDRA LLT]
- Immotile cilia syndrome (disorder) [SNOMED CT concept]
- Primary ciliary dyskinesia [MedDRA Preferred Term]
- Primary ciliary dyskinesia [OMIM phenotypic series]
- immotile cilia syndrome [SNOMED Notion]
DO Cross reference
- primary ciliary dyskinesia [DO Concept]
HPO term
- Ciliary dyskinesia [HPO term]
Manual NTBT mappings (CISMeF)
- Male infertility with normal virilization due to a developmental or structural testicular defect [ORDO Disease]
- Rare genetic respiratory disease [ORDO Disease]
- Rare male infertility [ORDO Disease]
- Rare pulmonary disease [ORDO Disease]
- Retinal ciliopathy due to mutation in the RPGR gene [ORDO Disease]
Record concept(s)
- Ciliary Dyskinesia, Primary [MeSH concept]
- ciliary motility disorders [MeSH concept]
Related MeSH Supplementary Concept(s)
- ciliary discoordination due to random ciliary orientation [MeSH Supplementary Concept]
- ciliary dyskinesia with transposition of ciliary microtubules [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 10 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 11 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 12 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 13 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 5 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 6 [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [MeSH Supplementary Concept]
- immotile cilia syndrome, due to defective radial spokes [MeSH Supplementary Concept]
- immotile cilia syndrome, due to excessively long cilia [MeSH Supplementary Concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- meckel syndrome type 2 [MeSH Supplementary Concept]
- meckel syndrome type 3 [MeSH Supplementary Concept]
See also
- Ciliopathies [MeSH Descriptor]
See also (suggested by CISMeF)
- cilia [MeSH Descriptor]
- dyskinesias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary Motility Defect [NCIt concept]
- Ciliary dyskinesia [HPO term]
- Immotile cilia syndrome [MedDRA LLT]
- Immotile cilia syndrome [ACR pathology]
- Immotile cilia syndrome (disorder) [SNOMED CT concept]
- Primary ciliary dyskinesia [ORDO Disease]
- ciliary dyskinesia [Disease (Nov.)]
- immotile cilia syndrome [SNOMED Notion]
- primary ciliary dyskinesia [DO Concept]
Validated automatic mappings to BTNT
- Ciliary dyskinesia [ICD-11 Subcategory]
- Kartagener syndrome [Disease (Nov.)]
- Primary Ciliary Dyskinesia 1 [NCIt concept]
- ciliary dyskinesia [Disease (Nov.)]
- primary ciliary dyskinesia [DO Concept]

Keyword's position in hierarchy(ies) :

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