An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. [ NCIT : C34704 ]
Synonyms:
Fredrickson type IIa hyperlipoproteinemia
hyperlipoproteinemia type II
hyperbetalipoproteinemia
familial hypercholesteremia
familial hypercholesterolaemia
Fredrickson type IIa lipidaemia
familial hyperbetalipoproteinaemia
Hyperlipoproteinemia Type II
familial hypercholesterolemia
This is just here as a test because I lose it
Term information
database
cross reference
- MONDO:0005439
- ICD9:V19.8 (MONDO:relatedTo)
- OMIM:143890
- NCIT:C34704 (MONDO:equivalentTo)
- UMLS:CN118841 (MONDO:equivalentTo)
- MedDRA:10054380
- MeSH:D006938
- OMIMPS:143890 (MONDO:equivalentTo)
- OMIM:144010
- SCTID:190773008 (MONDO:equivalentTo)
- SNOMEDCT:398036000
- OMIM:603776
- DOID:13810 (MONDO:equivalentTo)
comment
- PMID:26076948
- Editor note: TODO check xrefs
exactMatch
- https://omim.org/phenotypicSeries/PS143890
- http://identifiers.org/snomedct/190773008
- http://purl.obolibrary.org/obo/DOID_13810
- http://linkedlifedata.com/resource/umls/id/CN118841
- http://purl.obolibrary.org/obo/NCIT_C34704
has related synonym
- type II hyperlipidemia
id
- EFO:0004911
term editor
- Laura Huerta
Term relations
Subclass of:
- hyperlipoproteinemia
- familial hyperlipidemia
- participates_in some (
cholesterol homeostasis and
has component some abnormal) and has_participant some cholesterol