familial hypercholesterolemia - CISMeF

CISMeF

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Familial hypercholesterolemiaSNOMED Notion

Preferred Label : familial hypercholesterolemia;

Details

Origin ID

D6-60430;

UMLS CUI

C0020445;

Automatic exact mappings (from CISMeF team)
- Essential hyperlipoproteinemia [PASCAL descriptor]
- Fredrickson Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipoproteinemia [MedDRA LLT]
- Fredrickson type IIa hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipidemia, group A (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, Type IIa [NCIt concept]
- Pure hypercholesterolaemia [ICD-10 Sub-category (who)]
- Pure hypercholesterolemia [ICD-10 Sub-category]
- cholesterol [MedlinePlus Topic]
- cholesterol levels: what you need to know [MedlinePlus Topic]
- low density lipoprotein receptor [ORDO Gene]
- low density lipoprotein receptor [HGNC gene]
CISMeF manual mappings
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial hypercholesterolaemia [MedDRA LLT]
- Familial hypercholesterolaemia [ICD-11 More detail]
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Hypercholesterolemia, familial [OMIM phenotypic series]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- familial hypercholesterolemia [DO Concept]
- familial hypercholestrolemia [Blood Transfusion thesaurus concept]
- high serum cholesterol, familial [MeSH concept]
- high serum cholesterol, familial [MeSH Supplementary Concept]
- hyperlipoproteinemia type II [MeSH concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]
False automatic mappings
- Hyperbetalipoproteinemia (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Pure hypercholesterolaemia [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- cholesterol [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypercholesterolaemia [MedDRA LLT]
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
- Fredrickson Type II hyperlipidaemia [MedDRA LLT]
- Fredrickson Type II hyperlipidemia [MedDRA LLT]
- Fredrickson Type II lipidaemia [MedDRA LLT]
- Fredrickson Type II lipidemia [MedDRA LLT]
- Hyperbetalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, Type II [NCIt concept]
- Type II hyperlipidaemia [MedDRA Preferred Term]
- Type II hyperlipidemia [MedDRA LLT]
- Type II hyperlipoproteinaemia [MedDRA LLT]
- Type II hyperlipoproteinemia [MedDRA LLT]
- Type II lipidaemia [MedDRA LLT]
- Type II lipidemia [MedDRA LLT]
- familial hypercholesterolemia [DO Concept]
- hyperlipoproteinemia type II [MeSH concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]

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02/10/2025

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