myopathy, centronuclear, autosomal recessive

Preferred Label : myopathy, centronuclear, autosomal recessive;

MeSH note : mutation in amphiphysin-2;

MeSH synonym : myotubular myopathy, autosomal recessive;

Details

Origin ID

C562934;

UMLS CUI

C0410204;

Automatic exact mappings (from CISMeF team)
- autosomal recessive centronuclear myopathy [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive centronuclear myopathy [ICD-11 More detail]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 2 [OMIM Phenotype]
DO Cross reference
- centronuclear myopathy 2 [DO Concept]
MeSH term(s) associated for indexing
- myopathies, structural, congenital [MeSH Descriptor]
Record concept(s)
- myopathy, centronuclear, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy [ICD-11 More detail]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 2 [OMIM Phenotype]
- centronuclear myopathy 2 [DO Concept]

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