Familial lipoprotein lipase deficiency

Preferred Label : Familial lipoprotein lipase deficiency;

ICD-11 definition : This is caused by a mutation in the gene which codes lipoprotein lipase. As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.;

Details

Origin ID

1829539217;

UMLS CUI

C0023817;

Currated CISMeF NLP mapping
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- familial lipoprotein lipase deficiency [SNOMED Notion]
- familial lipoprotein lipase deficiency [DO Concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
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 (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency with type I phenotype (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperchylomicronemia [ICD-9 code]
- Hyperchylomicronemia [ICD-10 Sub-category]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, Type I [NCIt concept]
- 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]

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