distal myopathy, nonaka type

Preferred Label : distal myopathy, nonaka type;

MeSH synonym : myopathy, distal, with rimmed vacuoles; nonaka distal myopathy; nonaka myopathy; rimmed vacuole myopathy; distal myopathy with rimmed vacuoles; hereditary inclusion body myopathy; Ibm2; inclusion body myopathy 2; GNE myopathy;

Détails

Origin ID

C536816;

UMLS CUI

C1853926;

Automatic exact mappings (from CISMeF team)
- Distal myopathy with rimmed vacuoles [ICD-11 More detail]
- GNE myopathy [DO Concept]
- Hereditary inclusion body myopathy [ICD-11 More detail]
- Myopathy, distal, with rimmed vacuoles [OMIM Phenotype]
- Nonaka myopathy [ICD-11 More detail]
- glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ORDO Gene]
- inclusion body myositis [DO Concept]
Currated CISMeF NLP mapping
- GNE myopathy [MedDRA Preferred Term]
- GNE myopathy [ORDO Disease]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Inclusion body myopathy 2, autosomal recessive [OMIM Phenotype]
- Nonaka Myopathy [NCIt concept]
- Nonaka myopathy [OMIM Phenotype]
- hereditary inclusion body myopathy [Disease (Nov.)]
DO Cross reference
- GNE myopathy [DO Concept]
MeSH term(s) associated for indexing
- distal myopathies [MeSH Descriptor]
ORDO relation(s)
- GNE myopathy [ORDO Disease]
Record concept(s)
- Distal myopathy, Nonaka type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GNE myopathy [ORDO Disease]
- GNE myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Myopathy, distal, with rimmed vacuoles [OMIM Phenotype]
- Nonaka Myopathy [NCIt concept]
- Nonaka myopathy [OMIM Phenotype]
- hereditary inclusion body myopathy [Disease (Nov.)]

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