Metabolic Myopathy

Preferred Label : Metabolic Myopathy;

NCIt definition : A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.;

Details

Origin ID

C98985;

UMLS CUI

C0270984;

Automatic exact mappings (from CISMeF team)
- Metabolic myopathy [ORDO Disease]
- Metabolic myopathy [MedDRA Preferred Term]
- Metabolic myopathy (disorder) [SNOMED CT concept]
- metabolic myopathy [SNOMED Notion]
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)
- Metabolic myopathy [ORDO Disease]
- Metabolic myopathy [MedDRA Preferred Term]
- Metabolic myopathy (disorder) [SNOMED CT concept]
- metabolic myopathy [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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