Autosomal recessive centronuclear myopathy

Preferred Label : Autosomal recessive centronuclear myopathy;

ICD-11 definition : Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The age of onset varies from birth to childhood. AR-CNM is characterized by facial weakness including severe involvement of the masticatory muscles, and ocular abnormalities such as ptosis and external ophthalmoplegia. Muscle weakness is seen with variable severity and is usually prominently proximal.;

Détails

Origin ID

1844602815;

UMLS CUI

C0410204;

Automatic exact mappings (from CISMeF team)
- autosomal recessive centronuclear myopathy [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 2 [OMIM Phenotype]
- autosomal recessive centronuclear myopathy [MeSH concept]
- myopathy, centronuclear, autosomal recessive [MeSH concept]
- myopathy, centronuclear, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, centronuclear, 2 [OMIM Phenotype]
- centronuclear myopathy 2 [DO Concept]
- myopathy, centronuclear, autosomal recessive [MeSH concept]
- myopathy, centronuclear, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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