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Terminology chevron_right Concepts chevron_right 767133009

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767133009
The component that hold information about this concept.
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
Compound familial hypercholesterolemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)

SCTID: 767133009, Primitive, Active


767133009|Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)|
  • en Compound heterozygous familial hypercholesterolaemia
  • en Compound heterozygous familial hypercholesterolemia
  • en Double heterozygous familial hypercholesterolaemia
  • en Double heterozygous familial hypercholesterolemia
  • en Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
  • en Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
  • en Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)

767133009 |Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    398036000 |Familial hypercholesterolemia (disorder)| +
    767139008 |Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 412808005 |Serum total cholesterol measurement (procedure)| }
        { 42752001 |Due to (attribute)| = 767139008 |Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)| }
Active

3664438010 - Compound familial hypercholesterolaemia (en) View

3664438010
en
Synonym (core metadata concept)
Compound familial hypercholesterolaemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
False

3780609017 - Compound familial hypercholesterolemia (en) View

3780609017
en
Synonym (core metadata concept)
Compound familial hypercholesterolemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
False

5066052013 - Compound heterozygous familial hypercholesterolaemia (en) View

5066052013
en
Synonym (core metadata concept)
Compound heterozygous familial hypercholesterolaemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5066051018 - Compound heterozygous familial hypercholesterolemia (en) View

5066051018
en
Synonym (core metadata concept)
Compound heterozygous familial hypercholesterolemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3664437017 - Double heterozygous familial hypercholesterolaemia (en) View

3664437017
en
Synonym (core metadata concept)
Double heterozygous familial hypercholesterolaemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3664439019 - Double heterozygous familial hypercholesterolemia (en) View

3664439019
en
Synonym (core metadata concept)
Double heterozygous familial hypercholesterolemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3664436014 - Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (en) View

3664436014
en
Synonym (core metadata concept)
Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3664440017 - Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (en) View

3664440017
en
Synonym (core metadata concept)
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3664441018 - Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder) (en) View

3664441018
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9313717021) - 767133009 -> 767139008 (42752001) View

42752001 |Due to (attribute)|
767139008 |Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9313713020) - 767133009 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9313715029) - 767133009 -> 398036000 (116680003) View

116680003 |Is a (attribute)|
398036000 |Familial hypercholesterolemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9313716028) - 767133009 -> 767139008 (116680003) View

116680003 |Is a (attribute)|
767139008 |Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9358200025) - 767133009 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9532842028) - 767133009 -> 412808005 (363714003) View

363714003 |Interprets (attribute)|
412808005 |Serum total cholesterol measurement (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

767139008 View

767139008
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

398036000 View

398036000
Familial hypercholesterolemia (disorder)
Ldl receptor disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True
esc