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Metadata
DOID DOID:13810
Name familial hypercholesterolemia
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
Xrefs

CSP2005:1849-4634

GARD:10416

ICD10CM:E78.00

ICD10CM:E78.01

MESH:D006938

MTHICD9_2006:272.0

NCI2004_11_17:C34704

NCI:C34704

OMIM:143890

ORDO:406

SNOMEDCT_US_2018_03_01:31654005

UMLS_CUI:C0020445

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

familial hyperbetalipoproteinaemia [EXACT]

familial hypercholesteremia [EXACT]

Fredrickson type IIa hyperlipoproteinemia [EXACT]

Fredrickson type IIa lipidaemia [EXACT]

hyperbetalipoproteinemia [EXACT]

type II hyperlipidemia [EXACT]

Relationships

is_a familial hyperlipidemia

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