Hypercholesterolemia, Familial, 2

Preferred Label : Hypercholesterolemia, Familial, 2;

NCIt synonyms : Autosomal Dominant Hypercholesterolemia; FCHL2; Familial Hypercholesterolemia 2;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins.;

NCI Metathesaurus CUI : CL1413508;

Details

Origin ID

C176014;

UMLS CUI

C1704417;

Automatic exact mappings (from CISMeF team)
- Hyperlipidemia, familial combined, 2 [OMIM Phenotype]
- hyperlipidemia, combined, 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hypercholesterolemia, familial, 2 [OMIM Phenotype]
See also inter- (CISMeF)
- Familial defective apolipoprotein B-100 (disorder) [SNOMED CT concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial defective apolipoprotein B-100 (disorder) [SNOMED CT concept]
- Fredrickson Type IIb hyperlipoproteinaemia [MedDRA LLT]
- Fredrickson Type IIb hyperlipoproteinemia [MedDRA LLT]
- Hypercholesterolemia, familial, 2 [OMIM Phenotype]
- Type IIb hyperlipoproteinaemia [MedDRA LLT]
- Type IIb hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type IIb [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- APOB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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