Myotonia Congenita

Preferred Label : Myotonia Congenita;

NCIt definition : A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness, hypertrophy, pain, and cramping.;

Details

Origin ID

C84912;

UMLS CUI

C0027127;

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 [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]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [DO Concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [MeSH concept]
DO Cross reference
- myotonia congenita [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)
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- myotonia congenita [DO Concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [MeSH concept]
Validated automatic mappings to BTNT
- Myotonia congenita, dominant [ICD-11 More detail]
Validated automatic mappings to NTBT
- Congenital myopathies [ICD-11 Category]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- CLCN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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