Lecithin Acyltransferase Deficiency

Preferred Label : Lecithin Acyltransferase Deficiency;

NCIt definition : A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria.;

Details

Origin ID

C84813;

UMLS CUI

C0023195;

Automatic exact mappings (from CISMeF team)
- Norum disease [DO Concept]
CISMeF manual mappings
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial LCAT deficiency [ORDO Disease]
- LCAT deficiency [ORDO Disease]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH Descriptor]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH concept]
- Lecithin:cholesterol acyltransferase deficiency [OMIM Phenotype]
- lecithin cholesterol acetyltransferase deficiency [Disease (Nov.)]
DO Cross reference
- Norum disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial LCAT deficiency [ORDO Disease]
- Familial LCAT deficiency [MedDRA LLT]
- Familial lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- LCAT deficiency [ORDO Disease]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH concept]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH Descriptor]
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- Lecithin-cholesterol acyltransferase deficiency [MedDRA Preferred Term]
- Lecithin:cholesterol acyltransferase deficiency [OMIM Phenotype]
- Norum disease [DO Concept]
- Phosphatidylcholine-sterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- lecithin cholesterol acetyltransferase deficiency [Disease (Nov.)]
- phosphatidylcholine-sterol acyltransferase deficiency [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LCAT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients