Familial hypercholesterolemia 398036000 SNOMED CT code SNOMED code 398036000 name Familial hypercholesterolemia status active date introduced 2003-07-31 fully specified name(s) Familial hypercholesterolemia (disorder) synonyms Familial hypercholesterolaemia Familial hypercholesterolemia Familial hyperbetalipoproteinaemia Essential familial hypercholesterolaemia Essential familial hypercholesterolemia Familial hyperbetalipoproteinemia LDL receptor disorder LDL - Low density lipoprotein receptor disorder Low density lipoprotein catabolic defect attributes - group1 Has interpretation Above reference range 281302008 Interprets Serum total cholesterol measurement 412808005 parents Primary hypercholesterolemia 238076009 children Double heterozygous familial hypercholesterolemia 767133009 Familial hypercholesterolemia - heterozygous 238079002 Familial hypercholesterolemia - homozygous 238078005 Familial hypercholesterolemia due to genetic defect of apolipoprotein B 403831006 Familial hypercholesterolemia due to heterozygous LDL receptor mutation 403829002 Familial hypercholesterolemia due to homozygous LDL receptor mutation 403830007 Fredrickson type IIa hyperlipoproteinemia 397915002 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of lipoprotein AND/OR lipid metabolism 48286001 Disorder of lipoprotein storage and metabolism 238037008 Hyperlipidemia 55822004 Hypercholesterolemia 13644009 Primary hypercholesterolemia 238076009 Familial hypercholesterolemia 398036000 ancestors sorted most to least specific
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