limb-girdle muscular dystrophy type 2H

Preferred Label : limb-girdle muscular dystrophy type 2H;

MeSH note : mutation in TRIM32 gene;

MeSH synonym : muscular dystrophy, limb-girdle type 2H; sarcotubular myopathy; muscular dystrophy hutterite type; muscular dystrophy, hutterite type; muscular dystrophy, Limb-Girdle, type 2H; LGMD2H;

Details

Origin ID

C535897;

UMLS CUI

C0270968;

CISMeF manual mappings
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
- sarcotubular myopathy [SNOMED Notion]
Currated CISMeF NLP mapping
- Muscular dystrophy, limb-girdle, autosomal recessive 8 [OMIM Phenotype]
- Sarcotubular myopathy [ICD-11 More detail]
- Sarcotubular myopathy (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
- limb girdle muscular dystrophy type 2h [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- Limb-girdle muscular dystrophy type 2H [MeSH concept]
See also (suggested by CISMeF)
- TRIM32 protein, human [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hutterite type of muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 8 [OMIM Phenotype]
- Sarcotubular myopathy [ICD-11 More detail]
- Sarcotubular myopathy (disorder) [SNOMED CT concept]
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
- limb girdle muscular dystrophy type 2h [Disease (Nov.)]
- sarcotubular myopathy [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients