Batten-turner congenital myopathy

Preferred Label : Batten-turner congenital myopathy;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %255300;

Details

Origin ID

255300;

UMLS CUI

C0027127;

Currated CISMeF NLP mapping
- 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]
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita [ICD-11 Subcategory]
- Myotonia congenita [ICD-9 code]
- 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]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [DO Concept]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [MeSH concept]
DO Cross reference
- congenital myopathy [DO Concept]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Myopathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathy [MedDRA Preferred Term]
- 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]
- congenital myopathy, nos [SNOMED Notion]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
Validated automatic mappings to BTNT
- Myotonia congenita, dominant [ICD-11 More detail]
- myotonia congenita [Disease (Nov.)]

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