myopathy, central core

Preferred Label : myopathy, central core;

MeSH definition : An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452);

MeSH synonym : shy-magee syndrome; central core myopathy; central core diseases; shy magee syndrome; central core myopathies; myopathies, central core; central core disease of muscle; syndrome, shy-magee; central core disease;

Details

Origin ID

D020512;

UMLS CUI

C0751951;

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]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Shy-Magee syndrome [MedDRA LLT]
Currated CISMeF NLP mapping
- Central Core Disease [NCIt concept]
- Central core disease [ICD-11 Sub-sub category]
- Central core disease [MedDRA Preferred Term]
- Central core disease [ORDO Disease]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]
- central core disease [SNOMED Notion]
DO Cross reference
- central core disease [DO Concept]
Has phenotype(s) (HPO)
- Muscle weakness, diffuse [HPO term]
- Nonprogressive or slowly progressive [HPO term]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect [ORDO Disease]
- Congenital myopathy with cores [ORDO Disease]
- Neurological muscular channelopathy due to a genetic ryanodine receptor defect [ORDO Disease]
Record concept(s)
- myopathy, central core [MeSH concept]
Related MeSH Supplementary Concept(s)
- Chudley-Rozdilsky syndrome [MeSH Supplementary Concept]
- minicore myopathy, moderate, with hand involvement [MeSH Supplementary Concept]
- neuromuscular disease, congenital, with uniform type 1 fiber [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Central Core Disease [NCIt concept]
- Central core disease [ORDO Disease]
- Central core disease [MedDRA Preferred Term]
- Central core disease [ICD-11 Sub-sub category]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- Shy-Magee syndrome [MedDRA LLT]
- central core disease [SNOMED Notion]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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