Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency

Preferred Label : Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency;

ICD-11 definition : This is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner. This diagnosis is due to cholesteryl ester transfer protein deficiency.;

ICD-11 synonym : CEPT deficiency; CEPT - [cholesterol-ester transfer protein deficiency] deficiency; Familial hyperalphalipoproteinaemia; Cholesterol-ester transfer protein deficiency;

Details

Origin ID

411084659;

Automatic exact mappings (from CISMeF team)
- Cholesterol ester transfer protein [LOINC component]
- cholesterol ester transfer proteins [MeSH Descriptor]
- cholesterol-ester transfer protein deficiency [DO Concept]
Currated CISMeF NLP mapping
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
- Familial hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperalphalipoproteinemia 1 [OMIM Phenotype]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]
- cholesteryl ester transfer protein deficiency [MeSH concept]
- cholesteryl ester transfer protein deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia [PASCAL descriptor]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Increased HDL cholesterol concentration [HPO term]
- hyperalphalipoproteinemia [Disease (Nov.)]

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