sarcoglycanopathies

Preferred Label : sarcoglycanopathies;

MeSH definition : Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.;

MeSH synonym : sarcoglycanopathy;

MeSH hyponym : Alpha-Sarcoglycanopathies; Alpha Sarcoglycanopathies; Adhalinopathy, Primary; Adhalinopathies, Primary; Primary Adhalinopathies; Primary Adhalinopathy; LGMD2D; Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency; Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency; Limb-Girdle Muscular Dystrophy, Type 2D; Limb Girdle Muscular Dystrophy, Type 2D; Alpha-Sarcoglycanopathy; Alpha Sarcoglycanopathy; Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2; Adhalinopathies; Muscular Dystrophy, Limb-Girdle, Type 2D;

Wikipedia link : https://en.wikipedia.org/wiki/Sarcoglycanopathies;

Details

Origin ID

D058088;

UMLS CUI

C2936331;

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]
CISMeF manual mappings
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 [ORDO Disease]
Currated CISMeF NLP mapping
- Limb-Girdle Muscular Dystrophy Type 2D [NCIt concept]
- Qualitative or quantitative defects of sarcoglycan [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2D [DO Concept]
- sarcoglycanopathy [Disease (Nov.)]
Record concept(s)
- Alpha-Sarcoglycanopathies [MeSH concept]
- sarcoglycanopathies [MeSH concept]
Related MeSH Supplementary Concept(s)
- limb-girdle muscular dystrophy type 2F [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy, type 2C [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy, type 2E [MeSH Supplementary Concept]
See also inter- (CISMeF)
- limb girdle muscular dystrophy type 2d [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Qualitative or quantitative defects of sarcoglycan [ORDO Disease]
- Sarcoglycanopathy [MedDRA Preferred Term]
- sarcoglycanopathy [Disease (Nov.)]
Validated automatic mappings to BTNT
- Muscular dystrophy, limb-girdle, autosomal recessive 3 [OMIM Phenotype]

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