Autosomal Emery-Dreifuss Muscular Dystrophy

Preferred Label : Autosomal Emery-Dreifuss Muscular Dystrophy;

MeSH definition : Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene).;

MeSH synonym : Autosomal Emery Dreifuss Muscular Dystrophy;

MeSH hyponym : Autosomal Dominant Emery Dreifuss Muscular Dystrophy; Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant; Hauptmann-Thannhauser Muscular Dystrophy; Hauptmann Thannhauser Muscular Dystrophy; Scapuloilioperoneal Atrophy with Cardiopathy; Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant; Emery Dreifuss Muscular Dystrophy, Autosomal Dominant; Emery-Dreifuss Muscular Dystrophy 2; Emery Dreifuss Muscular Dystrophy 2; Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant;

Details

Origin ID

D000083144;

UMLS CUI

C5392234;

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)
- Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) [SNOMED CT concept]
- Emery-Dreifuss muscular dystrophy, autosomal dominant [ICD-11 More detail]
- Emery-dreifuss muscular dystrophy 2, autosomal dominant [OMIM Phenotype]
- autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DO Concept]
Record concept(s)
- Autosomal Emery-Dreifuss Muscular Dystrophy [MeSH concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- Emery-Dreifuss muscular dystrophy 4 [MeSH Supplementary Concept]
- Emery-Dreifuss muscular dystrophy 5 [MeSH Supplementary Concept]
- Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]

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