Chanarin-Dorfman Syndrome

Preferred Label : Chanarin-Dorfman Syndrome;

MeSH synonym : neutral lipid storage myopathy; ichthyosiform erythroderma with leukocyte vacuolation; ichthyotic neutral lipid storage disease; Chanarin-Dorfman disease; dorfman chanarin syndrome; neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; triglyceride storage disease with ichthyosis; Triglyceride storage disease with impaired long-chain fatty acid oxidation;

Details

Origin ID

C536560;

UMLS CUI

C0268238;

Automatic exact mappings (from CISMeF team)
- Dorfman-Chanarin disease [ICD-11 More detail]
- Neutral lipid storage disease with myopathy [OMIM Phenotype]
- Neutral lipid storage myopathy [ICD-11 More detail]
- Neutral lipid storage myopathy [ORDO Disease]
- neutral lipid storage disease [DO Concept]
Currated CISMeF NLP mapping
- Chanarin-dorfman syndrome [OMIM Phenotype]
- Dorfman Chanarin syndrome [Disease (Nov.)]
- Dorfman-Chanarin syndrome [PASCAL descriptor]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
- Triglyceride storage disease with ichthyosis (disorder) [SNOMED CT concept]
- triglyceride storage disease with ichthyosis [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Neutral lipid storage disease [ORDO Disease]
MeSH term(s) associated for indexing
- ichthyosiform erythroderma, congenital [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
ORDO relation(s)
- Neutral lipid storage disease [ORDO Disease]
Record concept(s)
- Chanarin-Dorfman Syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chanarin-dorfman syndrome [OMIM Phenotype]
- Dorfman Chanarin syndrome [Disease (Nov.)]
- Dorfman-Chanarin syndrome [PASCAL descriptor]
- Neutral lipid storage disease [ORDO Disease]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
- Triglyceride storage disease with ichthyosis (disorder) [SNOMED CT concept]
- triglyceride storage disease with ichthyosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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