myotubular myopathy with abnormal genital development - CISMeF

" /> myotubular myopathy with abnormal genital development - CISMeF

CISMeF

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Myotubular myopathy with abnormal genital developmentMeSH Supplementary Concept

Preferred Label : myotubular myopathy with abnormal genital development;

Details

Origin ID

C564561;

UMLS CUI

C1846169;

Currated CISMeF NLP mapping
- Myotubular myopathy with abnormal genital development [OMIM Phenotype]
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- X-linked myotubular myopathy-abnormal genitalia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- myopathies, structural, congenital [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- myotubular myopathy with abnormal genital development [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotubular myopathy with abnormal genital development [OMIM Phenotype]
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- X-linked myotubular myopathy-abnormal genitalia syndrome [ORDO Disease]

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22/05/2025

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