Sitosterolaemia

Preferred Label : Sitosterolaemia;

ICD-11 definition : Sitosterolaemia is a genetic disorder caused by deregulation of cholesterol absorption and accumulation of sterols, notably those of plant origin (hence the name phytosterolaemia). The clinical characteristics include xanthomas, premature coronary atherosclerosis, hemolytic anaemia and/or hepatopathy. The disease has been associated with mutations in two genes mapped to the STSL locus: ABCG5 and ABCG8.;

ICD-11 synonym : Sisterolaemic xanthomatosis; Phytosterolaemia; Xanthomatosis with sisterolaemia;

Details

Origin ID

808135226;

UMLS CUI

C0342907;

Currated CISMeF NLP mapping
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolemia [MeSH concept]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [MeSH Supplementary Concept]
- sitosterolemia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolaemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolemia [MedDRA LLT]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia [MeSH concept]
- Sitosterolemia [NCIt concept]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [DO Concept]
- sitosterolemia [MeSH Supplementary Concept]

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