Sarcotubular myopathy

Preferred Label : Sarcotubular myopathy;

ICD-11 definition : Uncommon congenital myopathy pathologically characterized by isolated segmental vacuolation of the sarcotubular system (sarcoplasmic reticulum and transverse tubules).;

ICD-11 synonym : TRIM32-vacuolar myopathy;

Détails

Origin ID

1229227864;

UMLS CUI

C0270968;

Currated CISMeF NLP mapping
- Limb-girdle muscular dystrophy type 2H [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 8 [OMIM Phenotype]
- 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.)]
- limb-girdle muscular dystrophy type 2H [MeSH Supplementary Concept]
- sarcotubular myopathy [SNOMED Notion]
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]
- Limb-girdle muscular dystrophy type 2H [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 8 [OMIM Phenotype]
- 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.)]
- limb-girdle muscular dystrophy type 2H [MeSH Supplementary Concept]
- sarcotubular myopathy [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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