Severe infantile myotubular myopathy

Preferred Label : Severe infantile myotubular myopathy;

ICD-11 definition : X-linked myotubular myopathy is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.;

Détails

Origin ID

922147818;

UMLS CUI

C0410203;

CISMeF manual mappings
- X-linked centronuclear myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Myopathy, centronuclear, X-linked [OMIM Phenotype]
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- severe x-linked myotubular myopathy [SNOMED Notion]
- x linked myotubular myopathy [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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