cholesteryl ester transfer protein deficiency

Preferred Label : cholesteryl ester transfer protein deficiency;

MeSH note : PROM;

MeSH synonym : CETP deficiency; hyperalphalipoproteinemia;

Details

Origin ID

C564591;

UMLS CUI

C0342883;

Currated CISMeF NLP mapping
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
- Familial hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency [ICD-11 More detail]
- Hyperalphalipoproteinemia [NCIt concept]
- Hyperalphalipoproteinemia [PASCAL descriptor]
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperalphalipoproteinemia 1 [OMIM Phenotype]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]
DO Cross reference
- hyperalphalipoproteinemia 1 [DO Concept]
HPO term
- Increased HDL cholesterol concentration [HPO term]
MeSH term(s) associated for indexing
- cholesterol ester transfer proteins [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- cholesteryl ester transfer protein deficiency [MeSH concept]
See also inter- (CISMeF)
- Hyperalphalipoproteinaemia [ICD-11 Subcategory]
- Increased HDL cholesterol concentration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia [NCIt concept]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Increased HDL cholesterol concentration [HPO term]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]
- hyperalphalipoproteinemia 1 [DO Concept]
Validated automatic mappings to BTNT
- Familial hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- hyperalphalipoproteinemia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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