generalized myotonia of thomsen

Preferred Label : generalized myotonia of thomsen;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0540215;

UMLS CUI

C2936781;

Currated CISMeF NLP mapping
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-11 Category]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy [ORDO Disease]
- Congenital myotonia [ORDO Disease]
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita [ICD-11 Subcategory]
- 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]
- congenital myopathy, nos [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- myotonia congenita [DO Concept]
- myotonia congenita [Disease (Nov.)]
False automatic mappings
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
Related record
- myotonia congenita [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- Thomsen's disease [MedDRA LLT]
- congenital myotonia, autosomal dominant form [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]

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