congenital myopathy, nos - CISMeF

CISMeF

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Congenital myopathy, nosSNOMED Notion

Preferred Label : congenital myopathy, nos;

Details

Origin ID

DA-51500;

UMLS CUI

C0270960;

Currated CISMeF NLP mapping
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-11 Category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy (disorder) [Inactive SNOMED CT concept]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [ICD-11 Subcategory]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- Thomsen's disease [MedDRA LLT]
- congenital myopathy [DO Concept]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
ICD-10 exact mapping(s)
- Congenital myopathies [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Cap myopathy [ORDO Disease]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
- Congenital myopathy with central nuclei [ORDO Disease]
- Congenital myopathy with cores [ORDO Disease]
- Congenital myopathy with excess of thin filaments [ORDO Disease]
- Congenital myopathy with fibre size variation [ORDO Disease]
- Congenital myopathy with protein accumulation [ORDO Disease]
- Congenital myopathy with vacuoles [ORDO Disease]
- Cylindrical spirals myopathy [ORDO Disease]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]
- King-Denborough syndrome [ORDO Disease]
- Myopathy with hexagonally cross-linked tubular arrays [ORDO Disease]
- Myosin storage myopathy [ORDO Disease]
- Native American myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Non-dystrophic myopathy [ORDO Disease]
Metaterm(s)
- neurology [CISMeF Metaterm]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- myotonia congenita [Disease (Nov.)]

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27/04/2024

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