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Terminology chevron_right Concepts chevron_right 767134003

Production
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  • Language with ID “17c3cc78-e3f9-5dfa-865a-d00cf297bdac” doesn’t exist. Perhaps it was deleted?
767134003
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Low density lipoprotein receptor adaptor protein 1 mutation (disorder)

SCTID: 767134003, Primitive, Active


767134003|Low density lipoprotein receptor adaptor protein 1 mutation (disorder)|
  • en Ldlrap1 (low density lipoprotein receptor adaptor protein 1) mutation
  • en Low density lipoprotein receptor adaptor protein 1 mutation
  • en Low density lipoprotein receptor adaptor protein 1 mutation (disorder)

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

<<< 445010006 |Low density lipoprotein receptor mutation (disorder)|
Active

3664445010 - LDLRAP1 (Low density lipoprotein receptor adaptor protein 1) mutation (en) View

3664445010
en
Synonym (core metadata concept)
LDLRAP1 (Low density lipoprotein receptor adaptor protein 1) mutation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3664443015 - Low density lipoprotein receptor adaptor protein 1 mutation (en) View

3664443015
en
Synonym (core metadata concept)
Low density lipoprotein receptor adaptor protein 1 mutation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3664444014 - Low density lipoprotein receptor adaptor protein 1 mutation (disorder) (en) View

3664444014
en
Fully specified name (core metadata concept)
Low density lipoprotein receptor adaptor protein 1 mutation (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9313755027) - 767134003 -> 238037008 (116680003) View

116680003 |Is a (attribute)|
238037008 |Disorder of lipoprotein storage and metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13672450023) - 767134003 -> 445010006 (116680003) View

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

445010006 View

445010006
Low density lipoprotein receptor mutation (disorder)
Low density lipoprotein receptor mutation
900000000000074008 |Necessary but not sufficient concept definition status (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

ExtendedMap object (717c250b-d571-5a4d-b814-92d151885a58) 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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