Antenatal multi-minicore disease with arthrogryposis multiplex congenital

Preferred Label : Antenatal multi-minicore disease with arthrogryposis multiplex congenital;

ICD-11 definition : Infrequent congenital myopathy characterized by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles.;

Details

Origin ID

2136141208;

UMLS CUI

C1843691;

CISMeF manual mappings
- minicore myopathy, antenatal onset, with arthrogryposis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Antenatal multi-minicore disease with arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- Antenatal multiminicore disease with arthrogryposis multiplex congenita [ORDO Disease]
- Minicore myopathy, antenatal onset, with arthrogryposis [OMIM Phenotype]
- Minicore myopathy, antenatal onset, with arthrogryposis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antenatal multiminicore disease with arthrogryposis multiplex congenita [ORDO Disease]
- Minicore myopathy, antenatal onset, with arthrogryposis [OMIM Phenotype]
- Minicore myopathy, antenatal onset, with arthrogryposis [MeSH concept]
- minicore myopathy, antenatal onset, with arthrogryposis [MeSH Supplementary Concept]

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