Mitochondrial Myopathy

Preferred Label : Mitochondrial Myopathy;

NCIt definition : Myopathy caused by mitochondrial abnormalities.;

Details

Origin ID

C101328;

UMLS CUI

C0162670;

Currated CISMeF NLP mapping
- Mitochondrial cytopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathies [ICD-11 Category]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [PASCAL descriptor]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy [OMIM Phenotype]
- mitochondrial myopathies [MeSH Descriptor]
- mitochondrial myopathies [MeSH concept]
- mitochondrial myopathy [SNOMED Notion]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
DO Cross reference
- mitochondrial 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)
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy [OMIM Phenotype]
- Mitochondrial myopathy, not elsewhere classified [ICD-10 Sub-category (who)]
- mitochondrial myopathies [MeSH Descriptor]
- mitochondrial myopathies [MeSH concept]
- mitochondrial myopathy [SNOMED Notion]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- disorder of mitochondrial functions [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [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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