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Terminology chevron_right Concepts chevron_right 767139008

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767139008
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)

SCTID: 767139008, Primitive, Active


767139008|Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)|
  • en Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
  • en Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)

767139008 |Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)|

<<< 767134003 |Low density lipoprotein receptor adaptor protein 1 mutation (disorder)|
Active

3664522019 - Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (en) View

3664522019
en
Synonym (core metadata concept)
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3664523012 - Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder) (en) View

3664523012
en
Fully specified name (core metadata concept)
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9313649025) - 767139008 -> 445010006 (116680003) View

116680003 |Is a (attribute)|
445010006 |Low density lipoprotein receptor mutation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9313650025) - 767139008 -> 767134003 (116680003) View

116680003 |Is a (attribute)|
767134003 |Low density lipoprotein receptor adaptor protein 1 mutation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

767134003 View

767134003
Low density lipoprotein receptor adaptor protein 1 mutation (disorder)
Low density lipoprotein receptor adaptor protein 1 mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

767133009 View

767133009
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)|
True

ExtendedMap object (95113f81-eb1b-5eae-9082-99a6170b3674) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E78.8
TRUE
ALWAYS E78.8
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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