sitosterolemia

Preferred Label : sitosterolemia;

MeSH note : Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body;

CISMeF synonym : Macrothrombocytopenia/Stomatocytosis, mediterranean;

MeSH synonym : pseudohomozygous familial hypercholesterolemia; phytosterolemia; plant sterol storage disease;

Details

Origin ID

C537345;

UMLS CUI

C0342907;

CISMeF manual mappings
- sitosteolaemia [Disease (Nov.)]
Currated CISMeF NLP mapping
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Sitosterolaemia [ICD-11 More detail]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolemia [NCIt concept]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosterolemia [DO Concept]
DO Cross reference
- sitosterolemia [DO Concept]
MeSH term(s) associated for indexing
- hypercholesterolemia [MeSH Descriptor]
- intestinal diseases [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- phytosterols [MeSH Descriptor]
ORDO relation(s)
- Sitosterolemia [ORDO Disease]
Record concept(s)
- Macrothrombocytopenia-Stomatocytosis, Mediterranean [MeSH concept]
- Sitosterolemia [MeSH 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]
- Sitosterolaemia [ICD-11 More detail]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [NCIt concept]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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