myotonia congenita

Preferred Label : myotonia congenita;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0014373;

UMLS CUI

C0027127;

Automatic exact mappings (from CISMeF team)
- Myotonia congenita, autosomal recessive [OMIM Phenotype]
- Myotonic disorders [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathies [ICD-11 Category]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy (disorder) [Inactive SNOMED CT concept]
- 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-11 Subcategory]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- 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 [Disease (Nov.)]
- myotonia congenita [DO Concept]
MeSH narrower concept(s)
- Myotonia Levior [MeSH concept]
- becker generalized myotonia [MeSH concept]
- generalized myotonia of thomsen [MeSH concept]
Related record
- myotonia congenita [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita [ICD-9 code]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- myotonia congenita [DO Concept]
Validated automatic mappings to BTNT
- Myotonia congenita, dominant [ICD-11 More detail]
Validated automatic mappings to NTBT
- Congenital myopathies [ICD-11 Category]

Keyword's position in hierarchy(ies) :

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