myopathy, reducing body, X-Linked, Early-Onset, severe - CISMeF

" /> myopathy, reducing body, X-Linked, Early-Onset, severe - CISMeF

CISMeF

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Myopathy, reducing body, X-Linked, Early-Onset, severeMeSH Supplementary Concept

Preferred Label : myopathy, reducing body, X-Linked, Early-Onset, severe;

MeSH note : mutations in FHL1;

Details

Origin ID

C567469;

UMLS CUI

C2678027;

Currated CISMeF NLP mapping
- Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset [OMIM Phenotype]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- myopathy, reducing body, X-Linked, Early-Onset, severe [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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19/05/2024

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