Ciliopathies - CISMeF

Preferred Label : Ciliopathies;

MeSH definition : Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.; Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.;

MeSH synonym : Ciliopathy;

Wikipedia link : https://en.wikipedia.org/wiki/Ciliopathies;

Détails

Origin ID

D000072661;

UMLS CUI

C4277690;

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)
- Ciliopathy [ORDO Disease]
Currated CISMeF NLP mapping
- ciliopathy [DO Concept]
Record concept(s)
- Ciliopathies [MeSH concept]
Related MeSH Supplementary Concept(s)
- Senior-Loken syndrome 3 [MeSH Supplementary Concept]
- Senior-Loken syndrome 4 [MeSH Supplementary Concept]
- Senior-Loken syndrome 5 [MeSH Supplementary Concept]
- Senior-Loken syndrome 6 [MeSH Supplementary Concept]
- senior loken syndrome [MeSH Supplementary Concept]
See also
- ciliary motility disorders [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ciliopathy [DO Concept]

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