Combined Lipase Deficiency

Preferred Label : Combined Lipase Deficiency;

NCIt definition : A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.;

Details

Origin ID

C126558;

UMLS CUI

C1855498;

Automatic exact mappings (from CISMeF team)
- familial lipase maturation factor 1 deficiency [DO Concept]
Currated CISMeF NLP mapping
- Lipase deficiency combined [MeSH concept]
- Lipase deficiency, combined [OMIM Phenotype]
- lipase deficiency combined [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipase deficiency combined [MeSH concept]
- Lipase deficiency, combined [OMIM Phenotype]
- lipase deficiency combined [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LMF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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