Familial hypercholesterolemia   398036000

SNOMED CT code


SNOMED code398036000
nameFamilial hypercholesterolemia
statusactive
date introduced2003-07-31
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 interpretationAbove reference range   281302008
InterpretsSerum total cholesterol measurement   412808005
parentsPrimary 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
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