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Terminology chevron_right Concepts chevron_right 403829002

Production
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403829002
The component that hold information about this concept.
Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)
Familial hypercholesterolemia due to heterozygous ldl receptor mutation
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 due to heterozygous low density lipoprotein receptor mutation (disorder)

SCTID: 403829002, Primitive, Active


403829002|Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)|
  • en Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation
  • en Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
  • en Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)
  • en Familial hypercholesterolaemia due to heterozygous ldl receptor mutation
  • en Familial hypercholesterolemia due to heterozygous ldl receptor mutation

403829002 |Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)|

<<< 398036000 |Familial hypercholesterolemia (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 412808005 |Serum total cholesterol measurement (procedure)| }
Active

3035741011 - Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation (en) View

3035741011
en
Synonym (core metadata concept)
Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2972405018 - Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (en) View

2972405018
en
Synonym (core metadata concept)
Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2972595014 - Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder) (en) View

2972595014
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

1771755013 - Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder) (en) View

1771755013
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

1773757014 - Familial hypercholesterolaemia due to heterozygous LDL receptor mutation (en) View

1773757014
en
Synonym (core metadata concept)
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

1775043017 - Familial hypercholesterolemia due to heterozygous LDL receptor mutation (en) View

1775043017
en
Synonym (core metadata concept)
Familial hypercholesterolemia due to heterozygous LDL receptor mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

398036000 View

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

ExtendedMap object (3e868cc8-20ab-5761-b2bb-49f5f78fb2f1) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E78.0
TRUE
ALWAYS E78.0
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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