Congenital multi-minicore disease with external ophthalmoplegia

Preferred Label : Congenital multi-minicore disease with external ophthalmoplegia;

ICD-11 definition : Inherited neuromuscular disorder defined by multiple areas with reduced oxidative activity running along an only limited extent of the longitudinal axis of the muscle fibre (minicores) and clinical features of a congenital myopathy. The distribution of weakness and wasting is similar to the classic phenotype with additional extra-ocular muscle involvement.;

ICD-11 synonym : Multiminicore disease with external ophthalmoplegia;

Details

Origin ID

1706863538;

UMLS CUI

C1850674;

Currated CISMeF NLP mapping
- 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 with external ophthalmoplegia [MeSH Supplementary Concept]
- minicore myopathy with external ophthalmoplegia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Multiminicore myopathy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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