X-Linked Emery-Dreifuss Muscular Dystrophy

Preferred Label : X-Linked Emery-Dreifuss Muscular Dystrophy;

MeSH definition : Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.;

MeSH synonym : X Linked Emery Dreifuss Muscular Dystrophy; Scapuloperoneal Syndrome, X-Linked; Scapuloperoneal Syndrome, X Linked; X-Linked Scapuloperoneal Syndrome; Benign Scapuloperoneal Muscular Dystrophy with Early Contractures;

Related MeSH term : Emery Dreifuss Muscular Dystrophy 1; EDMD1; Muscular Dystrophy, Emery-Dreifuss, X-Linked; Emerinopathy; Emerinopathies; Emery-Dreifuss Muscular Dystrophy, 1; Emery Dreifuss Muscular Dystrophy, 1; Emery-Dreifuss Muscular Dystrophy, X-Linked; Emery Dreifuss Muscular Dystrophy, X Linked; XMPMA; Emery Dreifuss Muscular Dystrophy 6, X Linked; Emery-Dreifuss Muscular Dystrophy 6; Emery Dreifuss Muscular Dystrophy 6; Emery-Dreifuss Muscular Dystrophy 1, X-Linked; Emery Dreifuss Muscular Dystrophy 1, X Linked;

Wikipedia link : https://en.wikipedia.org/wiki/Benign scapuloperoneal muscular dystrophy with early contractures;

Details

Origin ID

D000083143;

UMLS CUI

C0751337;

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)
- four and a half LIM domains 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Emery-Dreifuss muscular dystrophy, X-linked [ICD-11 More detail]
- Myopathy, X-linked, with postural muscle atrophy [OMIM Phenotype]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- X-linked Emery-Dreifuss muscular dystrophy 6 [DO Concept]
- X-linked myopathy with postural muscle atrophy [ORDO Disease]
- X-linked myopathy with postural muscle atrophy [ICD-11 More detail]
- X-linked myopathy with postural muscle atrophy (disorder) [SNOMED CT concept]
- X-linked scapuloperoneal muscular dystrophy [ORDO Disease]
- X-linked scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
Record concept(s)
- Emery-Dreifuss Muscular Dystrophy 1 [MeSH concept]
- Emery-Dreifuss muscular dystrophy 6, X-Linked [MeSH concept]
- X-Linked Emery-Dreifuss muscular dystrophy [MeSH concept]
- myopathy, X-Linked, with postural muscle atrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Emery-Dreifuss Muscular Dystrophy 1, X-Linked [NCIt concept]
- Emery-dreifuss muscular dystrophy 1, X-linked [OMIM Phenotype]
- X-linked Emery-Dreifuss muscular dystrophy 1 [DO Concept]
Validated automatic mappings to NTBT
- Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]

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