Myofibrillar Myopathy

Preferred Label : Myofibrillar Myopathy;

NCIt definition : An inherited or sporadic disorder affecting the skeletal muscles.;

Origin ID

C83009;

UMLS CUI

C2678065;

Automatic exact mappings (from CISMeF team)
- Myofibrillar myopathy [MedDRA Preferred Term]
- Myopathy, myofibrillar [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Myofibrillar myopathy [ORDO Disease]
- Myofibrillar myopathy [HPO term]
- Myofibrillar myopathy [ICD-11 Category]
- Myofibrillar myopathy (disorder) [SNOMED CT concept]
- myofibrillar myopathy [MeSH Supplementary Concept]
- myofibrillar myopathy [MeSH concept]
- myofibrillar myopathy [Disease (Nov.)]
- myofibrillar myopathy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myofibrillar myopathy [HPO term]
- Myofibrillar myopathy [ORDO Disease]
- Myofibrillar myopathy [MedDRA Preferred Term]
- Myofibrillar myopathy (disorder) [SNOMED CT concept]
- myofibrillar myopathy [MeSH concept]
- myofibrillar myopathy [MeSH Supplementary Concept]
- myofibrillar myopathy [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Filamin-C [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- FLNC Gene [NCIt concept]
- FLNC wt Allele [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]