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

Double heterozygous familial hypercholesterolemia   767133009

SNOMED CT code


SNOMED code767133009
nameDouble heterozygous familial hypercholesterolemia
statusactive
date introduced2018-07-31
fully specified name(s)Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
synonyms
  • Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
  • Double heterozygous familial hypercholesterolaemia
  • Double heterozygous familial hypercholesterolemia
  • Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
  • Compound heterozygous familial hypercholesterolemia
  • Compound heterozygous familial hypercholesterolaemia
attributes - group2
Due toCombined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations   767139008
attributes - group1
Has interpretationAbove reference range   281302008
InterpretsSerum total cholesterol measurement   412808005
parents
  • Familial hypercholesterolemia   398036000
  • Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations   767139008
  • Autosomal recessive hereditary disorder   85995004
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
                    Double heterozygous familial hypercholesterolemia   767133009

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
            Low density lipoprotein receptor mutation   445010006
              Low density lipoprotein receptor adaptor protein 1 mutation   767134003
                Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations   767139008
                  Double heterozygous familial hypercholesterolemia   767133009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Double heterozygous familial hypercholesterolemia   767133009

ancestors
sorted most to least specific
  • Familial hypercholesterolemia   398036000
  • Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations   767139008
  • Autosomal recessive hereditary disorder   85995004
  • Primary hypercholesterolemia   238076009
  • Low density lipoprotein receptor adaptor protein 1 mutation   767134003
  • Autosomal hereditary disorder   1899006
  • Hypercholesterolemia   13644009
  • Low density lipoprotein receptor mutation   445010006
  • Hereditary disease   32895009
  • Serum cholesterol above reference range   166830008
  • Genetic disease   782964007
  • Hyperlipidemia   55822004
  • Serum lipids above reference range   166816003
  • Disorder of lipoprotein storage and metabolism   238037008
  • Serum cholesterol outside reference range   67991000119104
  • Blood substance level above reference range   1217346007
  • Disorder of lipoprotein AND/OR lipid metabolism   48286001
  • Lipid above reference range   124042003
  • Serum cholesterol level - finding   365794002
  • Metabolic disease   75934005
  • Lipids outside reference range   166818002
  • Serum lipid levels - finding   365798004
  • Measurement finding above reference range   442756004
  • Cholesterol level - finding   365793008
  • Finding of blood substance level   1217344005
  • Disease   64572001
  • Lipid level - finding   365791005
  • Measurement finding outside reference range   442096005
  • Finding of substance level   785671009
  • Measurement finding   118245000
  • Evaluation finding   441742003
  • Procedure related finding   127325009
  • Clinical finding   404684003
  • SNOMED CT Concept   138875005
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