Congenital myopathies

ICD-11 code : 8C72;

Preferred Label : Congenital myopathies;

ICD-11 inclusion : x-linked centronuclear myopathy; congenital myopathy with fiber type disproportion; myotubular myopathy; benign congenital myopathy; severe x-linked myotubular myopathy; myotubular centronuclear myopathy; Fibre-type disproportion; fiber-type disproportion; congenital myopathy with fibre type disproportion; rod myopathy;

ICD-11 "other" category code : 8C72.Y;

ICD-11 "unspecified" category code : 8C72.Z;

Details

Origin ID

1185572073;

Currated CISMeF NLP mapping
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-10 Sub-category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy (disorder) [Inactive SNOMED CT concept]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- 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]
- congenital myopathy, nos [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
ICD-10 Mapping
- Congenital myopathies [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- 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, autosomal dominant [OMIM Phenotype]
- Thomsen and Becker disease [ORDO Disease]
- congenital myotonia, nos [SNOMED Notion]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
Validated automatic mappings to NTBT
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]

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