minicore myopathy with external ophthalmoplegia

Preferred Label : minicore myopathy with external ophthalmoplegia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565269;

UMLS CUI

C0270962;

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]
Related record
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multi-core congenital myopathy (disorder) [SNOMED CT concept]
- Multicore myopathy [MedDRA LLT]
- Multiminicore myopathy [ORDO Disease]
- multi-core congenital myopathy [SNOMED Notion]