Hyperlipoproteinemia, Type I

Preferred Label : Hyperlipoproteinemia, Type I;

NCIt synonyms : Lipoprotein Lipase Deficiency; Familial Hyperchylomicronemia; Familial Essential Hyperlipemia; Hyperlipoproteinemia Type 1A;

NCIt definition : A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.;

Details

Origin ID

C84771;

UMLS CUI

C0023817;

Automatic exact mappings (from CISMeF team)
- Lipoprotein lipase deficiency [PASCAL descriptor]
CISMeF manual mappings
- Familial lipoprotein lipase deficiency with type I phenotype (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [MedDRA Preferred Term]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type I [Disease (Nov.)]
- hyperlipoproteinemia type I [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
DO Cross reference
- familial lipoprotein lipase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency [ICD-11 More detail]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency with type I phenotype (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [ICD-10 Sub-category (who)]
- Hyperchylomicronemia [ICD-9 code]
- Hyperchylomicronemia [MedDRA LLT]
- Hyperchylomicronemia [ICD-10 Sub-category]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Lipoprotein-lipase deficiency [MedDRA LLT]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- familial lipoprotein lipase deficiency [DO Concept]
- familial lipoprotein lipase deficiency [SNOMED Notion]
- hyperlipoproteinemia type I [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- APOC2 Gene [NCIt concept]
- LPL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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