nemaline myopathy 5

Preferred Label : nemaline myopathy 5;

MeSH synonym : nemaline myopathy, amish type; nemaline myopathy, caused by mutation in the troponin t1 gene; amish nemaline myopathy;

Détails

Origin ID

C538397;

UMLS CUI

C1854380;

CISMeF manual mappings
- Amish nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Amish nemaline myopathy [ICD-11 More detail]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5a, autosomal recessive, severe infantile [OMIM Phenotype]
- nemaline myopathy 5 [DO Concept]
MeSH term(s) associated for indexing
- myopathies, nemaline [MeSH Descriptor]
Record concept(s)
- Nemaline myopathy 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy [ICD-11 More detail]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5a, autosomal recessive, severe infantile [OMIM Phenotype]
- nemaline myopathy 5 [DO Concept]

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