Chanarin-Dorfman Syndrome

Preferred Label : Chanarin-Dorfman Syndrome;

CISMeF synonym : triglyceride storage disease with impaired long-chain fatty acid oxidation;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0531021;

UMLS CUI

C0268238;

Automatic exact mappings (from CISMeF team)
- Dorfman-Chanarin disease [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]
Related record
- Chanarin-Dorfman Syndrome [MeSH Supplementary 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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