cholesterol ester storage disease

Preferred Label : cholesterol ester storage disease;

MeSH definition : An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.;

MeSH synonym : cholesteryl ester storage disease;

Wikipedia link : https://en.wikipedia.org/wiki/Cholesterol ester storage disease;

Details

Origin ID

D015217;

UMLS CUI

C0008384;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Cholesteryl ester storage disease [MedDRA LLT]
- cholesterol ester storage disease [DO Concept]
Currated CISMeF NLP mapping
- Cholesterol ester storage disease (disorder) [SNOMED CT concept]
- Cholesteryl ester storage disease [ICD-11 More detail]
- Cholesteryl ester storage disease [OMIM Phenotype]
- Cholesteryl ester storage disease [ORDO Disease]
- cholesterol ester storage disease [SNOMED Notion]
- cholesteryl ester storage disorder [Disease (Nov.)]
DO Cross reference
- cholesterol ester storage disease [DO Concept]
Indexing information
- Sebelipase alfa [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Lipid storage disease [ORDO Disease]
- Rare syndromic dyslipidemia [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Record concept(s)
- cholesterol ester storage disease [MeSH concept]
See also
- sterol esterase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesterol ester storage disease (disorder) [SNOMED CT concept]
- Cholesteryl ester storage disease [ORDO Disease]
- Cholesteryl ester storage disease [ICD-11 More detail]
- Cholesteryl ester storage disease [MedDRA LLT]
- Cholesteryl ester storage disease [OMIM Phenotype]
- cholesterol ester storage disease [SNOMED Notion]
- cholesterol ester storage disease [DO Concept]
- cholesteryl ester storage disorder [Disease (Nov.)]
Validated automatic mappings to BTNT
- Lysosomal acid lipase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

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