muscular dystrophies, limb-girdle

Preferred Label : muscular dystrophies, limb-girdle;

MeSH definition : A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).;

MeSH synonym : limb-girdle muscular dystrophy; limb-girdle muscular dystrophies; muscular dystrophy, limb girdle; limb girdle muscular dystrophies; limb girdle muscular dystrophy; muscular dystrophy, limb-girdle; muscular dystrophies, limb girdle; myopathic Limb-Girdle syndrome; Limb-Girdle syndrome;

Wikipedia automatic translation : Limb–girdle muscular dystrophy;

Wikipedia link : https://en.wikipedia.org/wiki/Limb–girdle muscular dystrophy;

Details

Origin ID

D049288;

UMLS CUI

C0686353;

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]
Currated CISMeF NLP mapping
- Limb girdle muscular dystrophy [PASCAL descriptor]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [HPO term]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) [SNOMED CT concept]
- limb girdle muscular dystrophy [Disease (Nov.)]
- limb-girdle muscular dystrophy [DO Concept]
- limb-girdle muscular dystrophy [SNOMED Notion]
DO Cross reference
- limb-girdle muscular dystrophy [DO Concept]
HPO term
- Limb-girdle muscular dystrophy [HPO term]
Indexing information
- TRIM72 protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy [ORDO Disease]
- Autosomal recessive limb-girdle muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Progressive muscular dystrophy [ORDO Disease]
ORDO relation(s)
- Limb-girdle muscular dystrophy [ORDO Disease]
Record concept(s)
- muscular dystrophies, Limb-Girdle [MeSH concept]
Related MeSH Supplementary Concept(s)
- Limb-Girdle muscular dystrophy, type 1G [MeSH Supplementary Concept]
- beta-sarcoglycanopathy [MeSH Supplementary Concept]
- dysferlinopathy [MeSH Supplementary Concept]
- epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH Supplementary Concept]
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy autosomal recessive [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy type 2A [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy type 2H [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy, type 1B [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy, type 2B [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1D [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1F [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2G [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2L [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH Supplementary Concept]
- muscular dystrophy, hemizygous lethal type [MeSH Supplementary Concept]
- muscular dystrophy, limb-girdle, type 1A [MeSH Supplementary Concept]
- myopathy, limb-girdle, with bone fragility [MeSH Supplementary Concept]
See also
- sarcoglycans [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Limb girdle muscular dystrophy [PASCAL descriptor]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy [HPO term]
- Limb-girdle muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) [SNOMED CT concept]
- limb girdle muscular dystrophy [Disease (Nov.)]
- limb-girdle muscular dystrophy [SNOMED Notion]
- limb-girdle muscular dystrophy [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients