neutral lipid storage disease with myopathy

Preferred Label : neutral lipid storage disease with myopathy;

MeSH synonym : neutral lipid storage disease without ichthyosis;

Origin ID

C565192;

UMLS CUI

C1853136;

Automatic exact mappings (from CISMeF team)
- Chanarin-dorfman syndrome [OMIM Phenotype]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
Currated CISMeF NLP mapping
- Neutral lipid storage disease with myopathy [OMIM Phenotype]
- Neutral lipid storage disease with myopathy (disorder) [SNOMED CT concept]
- Neutral lipid storage myopathy [ORDO Disease]
MeSH term(s) associated for indexing
- lipid metabolism, inborn errors [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- neutral lipid storage disease with myopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutral lipid storage disease with myopathy [OMIM Phenotype]
- Neutral lipid storage disease with myopathy (disorder) [SNOMED CT concept]
- Neutral lipid storage myopathy [ORDO Disease]