Kartagener syndrome

Preferred Label : Kartagener syndrome;

MeSH definition : An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.;

MeSH synonym : syndrome, kartagener's; kartageners syndrome; syndrome, kartagener; kartagener triad; kartagener's syndrome; syndrome, siewert; siewert syndrome; kartagener's triad; kartageners triad; dextrocardia, bronchiectasis, and sinusitis;

CISMeF synonym : Kartagener; triad, kartagener; triad, kartagener's; primary ciliary dyskinesia; polynesian bronchiectasis; ciliary dyskinesia, primary, 1; ciliary dyskinesia, primary; dyskinesia, primary ciliary;

DeCS synonym : Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus; Polynesian Bronchiectasis; Ciliary Dyskinesia, Primary, 1; Primary Ciliary Dyskinesia;

MeSH hyponym : Bronchiectasis, Polynesian; Polynesian Bronchiectases; Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus;

Wikipedia link : https://en.wikipedia.org/wiki/Kartagener syndrome;

Details

Origin ID

D007619;

UMLS CUI

C0022521;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- ACE wt Allele [NCIt concept]
- Des-Gamma Carboxyprothrombin [NCIt concept]
- Dicycloplatin [NCIt concept]
- Division of Cancer Prevention [NCIt concept]
- Hutchinson's triad (disorder) [SNOMED CT concept]
- Immotile cilia syndrome [PASCAL descriptor]
- Paraneoplastic neurologic syndrome [ORDO Disease]
- Phlebitis of leg superficial [MedDRA LLT]
- Primary ciliary dyskinesia [ICD-11 More detail]
- Protein Induced by Vitamin K Absence-II Measurement [NCIt concept]
- fallot's triad [SNOMED Notion]
- osteochondromatosis syndrome [SNOMED Notion]
- paroxysmal pain in patient with cancer pain [Indication]
Currated CISMeF NLP mapping
- Kartagener Syndrome [NCIt concept]
- Kartagener syndrome [DO Concept]
- Kartagener syndrome [Disease (Nov.)]
- Kartagener syndrome (disorder) [SNOMED CT concept]
- Kartagener's syndrome [MedDRA LLT]
- Primary ciliary dyskinesia, Kartagener type [ICD-11 More detail]
- Primary ciliary dyskinesia, Kartagener type [ORDO Disease]
- kartagener syndrome [SNOMED Notion]
DO Cross reference
- Kartagener syndrome [DO Concept]
Indexing information
- DNAAF5 protein, human [MeSH Supplementary Concept]
- DPCD protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Male infertility with normal virilization due to a developmental or structural testicular defect [ORDO Disease]
- Pigmented conjunctival lesion [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, 1 [MeSH concept]
- Polynesian Bronchiectasis [MeSH concept]
- kartagener syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- ciliary dyskinesia, primary, 7 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 8 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 9 [MeSH Supplementary Concept]
- primary ciliary dyskinesia, 2 [MeSH Supplementary Concept]
- primary ciliary dyskinesia, 3 [MeSH Supplementary Concept]
- primary ciliary dyskinesia, 4 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Ciliary dyskinesia, primary, 1 [OMIM Phenotype]
- Primary Ciliary Dyskinesia 1 [NCIt concept]
- primary ciliary dyskinesia 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kartagener Syndrome [NCIt concept]
- Kartagener syndrome [DO Concept]
- Kartagener syndrome [Disease (Nov.)]
- Kartagener syndrome (disorder) [SNOMED CT concept]
- Kartagener's syndrome [MedDRA LLT]
- Primary ciliary dyskinesia, Kartagener type [ORDO Disease]
- kartagener syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Immotile cilia syndrome [MedDRA LLT]
- Immotile cilia syndrome (disorder) [SNOMED CT concept]
- immotile cilia syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Primary ciliary dyskinesia [MedDRA Preferred Term]
- Primary ciliary dyskinesia [OMIM phenotypic series]
- Primary ciliary dyskinesia [ORDO Disease]
- primary ciliary dyskinesia [DO Concept]

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