myopathies, structural, congenital

Preferred Label : myopathies, structural, congenital;

MeSH definition : A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.;

MeSH synonym : non-progressive myopathies, congenital; structural myopathies, congenital; congenital structural myopathies; myopathies, congenital non-progressive; congenital structural myopathy; non progressive myopathies, congenital; congenital non-progressive myopathies; congenital non progressive myopathies; congenital non-progressive myopathy; myopathy, congenital non-progressive; non-progressive myopathy, congenital; myopathies, congenital structural; myopathy, congenital structural; structural myopathy, congenital; myopathy, myotubular; myopathies, myotubular; myotubular myopathies; myotubular myopathy;

CISMeF synonym : myopathy 1, myotubular; myopathy 1s, myotubular; myotubular myopathy 1s; Myotubular Myopathy, X-Linked;

DeCS synonym : Myopathy, Centronuclear, 1;

MeSH hyponym : centronuclear myopathy; tubular aggregate myopathy; autosomal recessive centronuclear myopathy; autosomal dominant myotubular myopathy; congenital fiber type disproportion; Congenital Myopathy with Fiber Type Disproportion; Myopathy, Congenital, With Fiber-Type Disproportion; Congenital Fiber-Type Disproportion; Congenital Fiber-Type Disproportions; Disproportion, Congenital Fiber-Type; Disproportions, Congenital Fiber-Type; Fiber-Type Disproportion, Congenital; Fiber-Type Disproportions, Congenital; CFTDM; Fiber-Type Disproportion Myopathy, Congenital; Fiber Type Disproportion Myopathy, Congenital; Myopathies, X-Linked Myotubular; Myopathy, X-Linked Myotubular; Myotubular Myopathies, X-Linked; Myotubular Myopathy, X Linked; X-Linked Myotubular Myopathies; XLMTM; Myotubular Myopathy 1; X-Linked Centronuclear Myopathy; Centronuclear Myopathies, X-Linked; Centronuclear Myopathy, X-Linked; Myopathies, X-Linked Centronuclear; Myopathy, X-Linked Centronuclear; X Linked Centronuclear Myopathy; X-Linked Centronuclear Myopathies; X-Linked Myotubular Myopathy; X Linked Myotubular Myopathy; Centronuclear Myopathies; Myopathies, Centronuclear; Myopathy, Centronuclear; Aggregate Myopathies, Tubular; Aggregate Myopathy, Tubular; Myopathies, Tubular Aggregate; Tubular Aggregate Myopathies; Myopathy, Tubular Aggregate;

Related MeSH term : myopathy, centronuclear, autosomal dominant; Myotubular Myopathy, Autosomal Dominant; Myopathy, Centronuclear, 1;

Wikipedia link : https://en.wikipedia.org/wiki/Myopathies, structural, congenital;

Details

Origin ID

D020914;

UMLS CUI

C0752282;

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)
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal dominant centronuclear myopathy (disorder) [SNOMED CT concept]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy with tubular aggregates (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 1 [OMIM Phenotype]
- Myopathy, centronuclear, 2 [OMIM Phenotype]
- Myopathy, centronuclear, X-linked [OMIM Phenotype]
- Myopathy, tubular aggregate [OMIM phenotypic series]
- Myotubular myopathy [ICD-11 More detail]
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- Tubular aggregate myopathy [ORDO Disease]
- X-Linked Centronuclear Myopathy [NCIt concept]
- X-linked centronuclear myopathy [ORDO Disease]
- autosomal dominant centronuclear myopathy [DO Concept]
- autosomal recessive centronuclear myopathy [DO Concept]
- centronuclear myopathy 1 [DO Concept]
- centronuclear myopathy X-linked [DO Concept]
- tubular aggregate myopathy 1 [DO Concept]
CISMeF manual mappings
- Congenital fiber-type disproportion myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Centronuclear myopathy [ORDO Disease]
- Congenital Structural Myopathy [NCIt concept]
- Congenital fiber type disproportion myopathy [PASCAL descriptor]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- Myopathy, centronuclear [OMIM phenotypic series]
- Myotubular myopathy [PASCAL descriptor]
- Myotubular myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy [DO Concept]
- congenital fiber type disproportion myopathy [SNOMED Notion]
- congenital structural myopathies [Disease (Nov.)]
- congenital structural myopathy [DO Concept]
- myotubular myopathy [Disease (Nov.)]
- myotubular myopathy [SNOMED Notion]
DO Cross reference
- autosomal dominant centronuclear myopathy [DO Concept]
- centronuclear myopathy [DO Concept]
- centronuclear myopathy X-linked [DO Concept]
- congenital structural myopathy [DO Concept]
False automatic mappings
- Myopathy, tubular aggregate, 1 [OMIM Phenotype]
Has phenotype(s) (HPO)
- Difficulties with night vision [HPO term]
- Weakness [HPO term]
Manual BTNT mappings - CISMeF
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- X-linked centronuclear myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Congenital myopathy with central nuclei [ORDO Disease]
Record concept(s)
- Myopathy, Centronuclear, 1 [MeSH concept]
- Myotubular Myopathy, X-Linked [MeSH concept]
- autosomal dominant myotubular myopathy [MeSH concept]
- autosomal recessive centronuclear myopathy [MeSH concept]
- centronuclear myopathy [MeSH concept]
- congenital fiber type disproportion [MeSH concept]
- myopathies, structural, congenital [MeSH concept]
- myopathy, centronuclear, autosomal dominant [MeSH concept]
- tubular aggregate myopathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- Actin-Accumulation myopathy [MeSH Supplementary Concept]
- Spheroid body myopathy [MeSH Supplementary Concept]
- cap myopathy [MeSH Supplementary Concept]
- intranuclear rod myopathy [MeSH Supplementary Concept]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
- myofibrillar myopathy [MeSH Supplementary Concept]
- myopathy, centronuclear, autosomal recessive [MeSH Supplementary Concept]
- myopathy, congenital, with Fiber-Type disproportion, X-Linked [MeSH Supplementary Concept]
- myopathy, myofibrillar, Bag3-Related [MeSH Supplementary Concept]
- myosclerosis, autosomal recessive [MeSH Supplementary Concept]
- myotilinopathy [MeSH Supplementary Concept]
- myotubular myopathy with abnormal genital development [MeSH Supplementary Concept]
- pleoconial myopathy with salt craving [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Structural Myopathy [NCIt concept]
- congenital structural myopathies [Disease (Nov.)]
- congenital structural myopathy [DO Concept]
Validated automatic mappings to BTNT
- Autosomal recessive centronuclear myopathy [ICD-11 More detail]
- Centronuclear Myopathy 1 [NCIt concept]
- Centronuclear myopathy [ICD-11 Sub-sub category]
- Centronuclear myopathy with type I fibre hypotrophy [ICD-11 More detail]
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy 4a, autosomal dominant [OMIM Phenotype]
- Myopathy with tubular aggregates [ICD-11 More detail]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]
- x linked myotubular myopathy [Disease (Nov.)]

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