muscular dystrophy, emery-dreifuss

Preferred Label : muscular dystrophy, emery-dreifuss;

MeSH definition : A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.; A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.;

MeSH synonym : emery-dreifuss muscular dystrophy; emery-dreifuss type muscular dystrophy; muscular dystrophy, emery-dreifuss type; emery-dreifuss syndrome; emery dreifuss syndrome; muscular dystrophy, emery dreifuss; emery dreifuss muscular dystrophy;

CISMeF synonym : Emery-Dreifuss; Emery Dreifuss; Myh7-Related scapuloperoneal myopathies; myopathies, Myh7-Related scapuloperoneal; scapuloperoneal myopathies, Myh7-Related;

Wikipedia automatic translation : Emery–Dreifuss muscular dystrophy;

MeSH hyponym : autosomal dominant Emery-Dreifuss muscular dystrophy; autosomal recessive Emery-Dreifuss muscular dystrophy; X-Linked Emery-Dreifuss muscular dystrophy; X Linked Emery Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy, 1; Emery Dreifuss Muscular Dystrophy, 1; Emery-Dreifuss Muscular Dystrophy, X-Linked; Emery Dreifuss Muscular Dystrophy, X Linked; Scapuloperoneal Syndrome, X-Linked; Scapuloperoneal Syndrome, X Linked; X-Linked Scapuloperoneal Syndrome; Muscular Dystrophy, Scapuloperoneal; Scapuloperoneal Muscular Dystrophy; Scapuloperoneal Myopathy, MYH7-Related; MYH7-Related Scapuloperoneal Myopathy; Myopathy, MYH7-Related Scapuloperoneal; Scapuloperoneal Myopathy, MYH7 Related; Benign Scapuloperoneal Muscular Dystrophy with Early Contractures; Muscular Dystrophy, Emery-Dreifuss, X-Linked; Autosomal Dominant Emery Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant; Emery Dreifuss Muscular Dystrophy, Autosomal Dominant; Scapuloilioperoneal Atrophy with Cardiopathy; Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant; Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant; Emery-Dreifuss Muscular Dystrophy 2; Emery Dreifuss Muscular Dystrophy 2; Hauptmann-Thannhauser Muscular Dystrophy; Hauptmann Thannhauser Muscular Dystrophy; Autosomal Recessive Emery Dreifuss Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive; Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery Dreifuss Muscular Dystrophy, Autosomal Recessive;

Related MeSH term : Scapuloperoneal Myopathy, MYH7-Related; MYH7-Related Scapuloperoneal Myopathy; Myopathy, MYH7-Related Scapuloperoneal; Scapuloperoneal Myopathy, MYH7 Related; Muscular Dystrophy, Scapuloperoneal; Myosin Storage Myopathy; Myosin Storage Myopathies; Storage Myopathy, Myosin; Myopathy, Hyaline Body, Autosomal Dominant; Myopathy, Myosin Storage;

Wikipedia link : https://en.wikipedia.org/wiki/Emery–Dreifuss muscular dystrophy;

Details

Origin ID

D020389;

UMLS CUI

C0410189;

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]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal recessive Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) [SNOMED CT concept]
- Emery-Dreifuss muscular dystrophy, X-linked [ICD-11 More detail]
- Emery-Dreifuss muscular dystrophy, autosomal dominant [ICD-11 More detail]
- Emery-Dreifuss muscular dystrophy, autosomal recessive [ICD-11 More detail]
- Muscular dystrophy [ICD-10 Sub-category]
- Qualitative or quantitative defects of emerin [ORDO Disease]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- Scapuloperoneal myopathy, myh7-related [OMIM Phenotype]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked Emery-Dreifuss muscular dystrophy 1 [DO Concept]
- X-linked scapuloperoneal muscular dystrophy [ORDO Disease]
- X-linked scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DO Concept]
Currated CISMeF NLP mapping
- Emery Dreifuss muscular dystrophy [Disease (Nov.)]
- Emery-Dreifuss Muscular Dystrophy [NCIt concept]
- Emery-Dreifuss muscular dystrophy [DO Concept]
- Emery-Dreifuss muscular dystrophy [PASCAL descriptor]
- Emery-Dreifuss muscular dystrophy [ICD-11 Subcategory]
- Emery-Dreifuss muscular dystrophy [MedDRA Preferred Term]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Emery-dreifuss muscular dystrophy [OMIM phenotypic series]
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
DO Cross reference
- Emery-Dreifuss muscular dystrophy [DO Concept]
Indexing information
- emerin [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Neuromuscular disease with dilated cardiomyopathy [ORDO Disease]
- Nuclear cell envelopathy [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Qualitative or quantitative protein defects in neuromuscular diseases [ORDO Disease]
ORDO relation(s)
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
Record concept(s)
- Scapuloperoneal Muscular Dystrophy [MeSH concept]
- autosomal recessive Emery-Dreifuss muscular dystrophy [MeSH concept]
- muscular dystrophy, Emery-Dreifuss [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]
- muscular dystrophy, tardive Emery-Dreifuss type, with contractures [MeSH Supplementary Concept]
- scapuloperoneal myopathy [MeSH Supplementary Concept]
- scapuloperoneal myopathy, X-Linked dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emery-Dreifuss Muscular Dystrophy [NCIt concept]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [DO Concept]
- Emery-Dreifuss muscular dystrophy [MedDRA Preferred Term]
- Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-dreifuss muscular dystrophy 1, X-linked [OMIM Phenotype]
- Emery-dreifuss muscular dystrophy 2, autosomal dominant [OMIM Phenotype]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]

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