Hyperlipoproteinemia, type V

Preferred Label : Hyperlipoproteinemia, type V;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperlipemia, combined fat and carbohydrate-induced; Hyperlipemia, mixed; Hyperchylomicronemia with hyperprebetalipoproteinemia, familial; Hyperlipidemia, type V; Hyperchylomicronemia, late-onset;

Inheritance : Autosomal dominant;

Prefixed ID : #144650;

Details

Origin ID

144650;

UMLS CUI

C0020481;

Automatic exact mappings (from CISMeF team)
- Hyperlipoproteinaemia type 5 [ICD-11 More detail]
- Type V hyperlipidaemia [MedDRA Preferred Term]
- Type V hyperlipidemia [MedDRA LLT]
- hyperchylomicronemia with hyperprebetalipoproteinemia, familial [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
- hyperlipoproteinemia type ii [MeSH Descriptor]
- hyperlipoproteinemia type iii [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial type 5 hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia type 5 [ORDO Disease]
- Type V hyperlipoproteinaemia [MedDRA LLT]
- Type V hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type V [Disease (Nov.)]
- hyperlipoproteinemia type V [DO Concept]
- hyperlipoproteinemia type V [MeSH concept]
- hyperlipoproteinemia type v [MeSH Descriptor]
DO Cross reference
- familial apolipoprotein A5 deficiency [DO Concept]
- hyperlipoproteinemia type V [DO Concept]
Genes related to phenotype
- Apolipoprotein a-V [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Decreased LDL cholesterol concentration [HPO term]
- Diabetes mellitus [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Increased circulating chylomicron concentration [HPO term]
ORDO concept(s)
- Familial apolipoprotein A5 deficiency [ORDO Disease]
- Hyperlipoproteinemia type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial type 5 hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Fredrickson Type V Lipidemia [NCIt concept]
- Fredrickson Type V lipidaemia [MedDRA LLT]
- Fredrickson Type V lipidemia [MedDRA LLT]
- Hyperlipoproteinemia type 5 [ORDO Disease]
- Type V hyperlipidaemia [MedDRA Preferred Term]
- Type V hyperlipidemia [MedDRA LLT]
- Type V hyperlipoproteinaemia [MedDRA LLT]
- Type V hyperlipoproteinemia [MedDRA LLT]
- Type V lipidaemia [MedDRA LLT]
- Type V lipidemia [MedDRA LLT]
- familial type 5 hyperlipoproteinemia [SNOMED Notion]
- hyperlipoproteinemia type V [MeSH concept]
- hyperlipoproteinemia type V [DO Concept]
- hyperlipoproteinemia type V [Disease (Nov.)]
- hyperlipoproteinemia type v [MeSH Descriptor]

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