Centronuclear myopathy with type I fibre hypotrophy

Preferred Label : Centronuclear myopathy with type I fibre hypotrophy;

ICD-11 definition : Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.;

ICD-11 synonym : Autosomal dominant centronuclear myopathy;

Details

Origin ID

629192160;

Automatic exact mappings (from CISMeF team)
- autosomal dominant centronuclear myopathy [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal dominant centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 1 [OMIM Phenotype]
- myopathy, centronuclear, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]

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