familial hypercholesterolemia

Term ID

DOID:13810

Synonyms

• familial hyperbetalipoproteinaemia
• familial hypercholesteremia
• Fredrickson type IIa hyperlipoproteinemia
• Fredrickson type IIa lipidaemia
• hyperbetalipoproteinemia
• type II hyperlipidemia

Definition

A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. http://en.wikipedia.org/wiki/Familial_hypercholesterolemia

References

• GARD:10416
• ICD10CM:E78.01
• MESH:D006938
• NCI:C34704
• OMIM:143890
• ORDO:406
• SNOMEDCT_US_2023_03_01:190772003
• UMLS_CUI:C0020445

Ontology

Human Disease   ( DOID:13810 )