minicore myopathy with external ophthalmoplegia

Preferred Label : minicore myopathy with external ophthalmoplegia;

MeSH note : associated with mutations in RYR1;

MeSH synonym : multiminicore disease with external ophthalmoplegia; multicore myopathy with external ophthalmoplegia; multiminicore myopathy; minicore myopathy; multicore myopathy; multicore disease; multiminicore disease; minicore disease; Multi-Minicore disease;

Détails

Origin ID

C564969;

UMLS CUI

C1850674;

Automatic exact mappings (from CISMeF team)
- Multicore myopathy [PASCAL descriptor]
- Multicore myopathy [MedDRA LLT]
CISMeF manual mappings
- Multiminicore myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multi-minicore disease with external ophthalmoplegia (disorder) [SNOMED CT concept]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Congenital myopathy 1b, autosomal recessive [OMIM Phenotype]
- Minicore Myopathy with External Ophthalmoplegia [NCIt concept]
- Minicore myopathy [HPO term]
- Multi-core congenital myopathy (disorder) [SNOMED CT concept]
HPO term
- Minicore myopathy [HPO term]
MeSH term(s) associated for indexing
- myopathies, structural, congenital [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
- ryanodine receptor calcium release channel [MeSH Descriptor]
Record concept(s)
- minicore myopathy with external ophthalmoplegia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Congenital myopathy 1b, autosomal recessive [OMIM Phenotype]
- Minicore Myopathy with External Ophthalmoplegia [NCIt concept]
- Minicore myopathy [HPO term]
Validated automatic mappings to NTBT
- Multi-minicore disease [ICD-11 More detail]

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