Familial hypercholesterolaemia

Preferred Label : Familial hypercholesterolaemia;

ICD-11 definition : Familial hypercholesterolaemia is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels caused by mutations in the genes related to LDLR and its function.;

ICD-11 synonym : low density lipoprotein catabolic defect; familial cholesterolemia; low density lipoprotein receptor disorder; Hypercholesterolaemia due to LDL receptor deficiency;

ICD-11 inclusion : Fredrickson type 2A hyperlipoproteinemia; Fredrickson 2A; familial hyperbetalipoproteinaemia;

Details

Origin ID

1958000898;

Currated CISMeF NLP mapping
- Familial hypercholesterolaemia [MedDRA LLT]
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- familial hypercholesterolemia [SNOMED Notion]
- familial hypercholestrolemia [Blood Transfusion thesaurus concept]
- high serum cholesterol, familial [MeSH concept]
- high serum cholesterol, familial [MeSH Supplementary Concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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