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familial hypercholesterolemia

^ http://purl.obolibrary.org/obo/MONDO_0005439

An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. [ NCIT:C34704 ]

Term info

database cross reference
  • Orphanet:477811 (MONDO:relatedTo)
  • EFO:0004911 (MONDO:equivalentTo)
  • ICD9:V19.8 (MONDO:relatedTo)
  • OMIMPS:143890 (MONDO:equivalentTo)
  • NCIT:C34704 (MONDO:equivalentTo)
  • UMLS:CN118841 (MONDO:equivalentTo)
  • SCTID:190773008 (MONDO:equivalentTo)
  • DOID:13810 (MONDO:equivalentTo)
comment

Editor note: TODO check xrefs

definition

An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34704, https://omim.org/phenotypicSeries/PS143890, http://linkedlifedata.com/resource/umls/id/CN118841, http://purl.obolibrary.org/obo/DOID_13810, http://identifiers.org/snomedct/190773008

has exact synonym

Fredrickson type IIa hyperlipoproteinemia, hyperlipoproteinemia type II, familial hypercholesteremia, hyperbetalipoproteinemia, familial hyperbetalipoproteinaemia, Fredrickson type IIa lipidaemia

has related synonym

type II hyperlipidemia

id

MONDO:0005439

Term relations