distal myopathies

Preferred Label : distal myopathies;

MeSH definition : A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.;

MeSH synonym : distal myopathy; myopathies, distal; distal muscular dystrophy; myopathy, distal; distal muscular dystrophies; muscular dystrophies, distal; muscular dystrophy, distal;

CISMeF synonym : 1 myopathies, distal; 1 myopathy, distal; distal myopathies, laing; laing distal myopathies; myopathies, laing distal;

MeSH hyponym : tibial muscular dystrophy, tardive; welander distal myopathy; tibial muscular dystrophy; Muscular Dystrophies, Tibial; Muscular Dystrophy, Tibial; Udd Myopathy; Myopathy, Udd; Udd-Markesbery Muscular Dystrophy; Muscular Dystrophy, Udd-Markesbery; Udd Markesbery Muscular Dystrophy; Finnish-Markesbery Muscular Dystrophy; Finnish Markesbery Muscular Dystrophy; Muscular Dystrophy, Finnish-Markesbery; Udd Distal Myopathy; Distal Myopathy, Udd; Myopathy, Udd Distal; Distal Myopathy, Welander; Myopathy, Late Distal Hereditary; Myopathy, Distal, Early-Onset, Autosomal Dominant; Myopathy, Distal 1; Distal 1 Myopathies; Distal 1 Myopathy; Myopathies, Distal 1; Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant; Distal Myopathy 1; Distal Myopathy 1s; Myopathy 1, Distal; Myopathy 1s, Distal; Laing Distal Myopathy; Distal Myopathy, Laing; Myopathy, Laing Distal; Laing Early-Onset Distal Myopathy; Laing Early Onset Distal Myopathy; Myopathy, Distal, Swedish; Distal Myopathy Markesbery-Griggs Type; Distal Myopathy Markesbery Griggs Type; Tardive Tibial Muscular Dystrophy;

Wikipedia link : https://en.wikipedia.org/wiki/Distal muscular dystrophy;

Details

Origin ID

D049310;

UMLS CUI

C0751336;

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)
- Distal myopathy Welander type (disorder) [SNOMED CT concept]
- Distal myopathy, Welander type [ORDO Disease]
- Laing distal myopathy [ICD-11 More detail]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Tibial muscular dystrophy [ORDO Disease]
- Tibial muscular dystrophy (disorder) [SNOMED CT concept]
- Tibial muscular dystrophy, tardive [OMIM Phenotype]
- Welander distal myopathy [ICD-11 More detail]
- Welander distal myopathy [MedDRA Preferred Term]
- Welander distal myopathy [OMIM Phenotype]
- distal myopathy [DO Concept]
- tibial muscular dystrophy [DO Concept]
Currated CISMeF NLP mapping
- Distal Muscular Dystrophy [NCIt concept]
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Distal myopathies [ICD-11 Category]
- Distal myopathy [ORDO Disease]
- Laing early-onset distal myopathy [ORDO Disease]
- Myopathy, distal, 1 [OMIM Phenotype]
- distal myopathies [Disease (Nov.)]
- distal myopathy 1 [DO Concept]
DO Cross reference
- distal myopathy [DO Concept]
- tibial muscular dystrophy [DO Concept]
Manual BTNT mappings - CISMeF
- Autosomal dominant distal myopathy [ORDO Disease]
- Autosomal recessive distal myopathy [ORDO Disease]
- Distal myopathy with anterior tibial onset [ORDO Disease]
- GNE myopathy [ORDO Disease]
- Miyoshi myopathy [ORDO Disease]
- Vocal cord and pharyngeal distal myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic skeletal muscle disease [ORDO Disease]
- Qualitative or quantitative defects of titin [ORDO Disease]
Record concept(s)
- Distal Myopathy 1 [MeSH concept]
- distal myopathies [MeSH concept]
- tibial muscular dystrophy [MeSH concept]
- tibial muscular dystrophy, tardive [MeSH concept]
- welander distal myopathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- jankovic rivera syndrome [MeSH Supplementary Concept]
- miyoshi muscular dystrophy 2 [MeSH Supplementary Concept]
- miyoshi muscular dystrophy 3 [MeSH Supplementary Concept]
- miyoshi myopathy [MeSH Supplementary Concept]
- myopathy, distal 2 [MeSH Supplementary Concept]
- myopathy, distal 3 [MeSH Supplementary Concept]
- myopathy, distal, with anterior tibial onset [MeSH Supplementary Concept]
- myopathy, distal, with onset in infancy [MeSH Supplementary Concept]
- welander distal myopathy, swedish type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal Muscular Dystrophy [NCIt concept]
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Distal myopathy [ORDO Disease]
- distal myopathies [Disease (Nov.)]
- distal myopathy [DO Concept]
Validated automatic mappings to BTNT
- Laing Distal Myopathy [Disease (Nov.)]
- Laing early-onset distal myopathy (disorder) [SNOMED CT concept]
- tibial muscular dystrophy [Disease (Nov.)]

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