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Terminology chevron_right Concepts chevron_right 1100941000168100

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  • Language with ID “3323ed2a-49a5-57ba-a69e-1e573994fba8” doesn’t exist. Perhaps it was deleted?
1100941000168100
The component that hold information about this concept.
Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)
Paternally inherited sdhd gene mutation detected
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

Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)

SCTID: 1100941000168100, Primitive, Active


1100941000168100|Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)|
  • en Mutation of succinate dehydrogenase complex subunit d gene inherited from father
  • en Paternally inherited sdhd gene mutation detected
  • en Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected
  • en Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)

1100941000168100 |Paternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)|

<<< 412731001 |Genetic finding detected (finding)| :
        { 363713009 |Has interpretation (attribute)| = 260373001 |Detected (qualifier value)|,
          363714003 |Interprets (attribute)| = 405824009 |Genetic test (procedure)| }
Active

2280891000168116 - Mutation of succinate dehydrogenase complex subunit D gene inherited from father (en) View

2280891000168116
en
Synonym (core metadata concept)
Mutation of succinate dehydrogenase complex subunit D gene inherited from father
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5473694015 - Paternally inherited SDHD gene mutation detected (en) View

5473694015
en
Synonym (core metadata concept)
Paternally inherited SDHD gene mutation detected
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

247170141000036112 - Paternally inherited succinate dehydrogenase complex subunit D gene mutation detected (en) View

247170141000036112
en
Synonym (core metadata concept)
Paternally inherited succinate dehydrogenase complex subunit D gene mutation detected
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

672088641000036118 - Paternally inherited succinate dehydrogenase complex subunit D gene mutation detected (finding) (en) View

672088641000036118
en
Fully specified name (core metadata concept)
Paternally inherited succinate dehydrogenase complex subunit D gene mutation detected (finding)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (16418229024) - 1100941000168100 -> 412731001 (116680003) View

116680003 |Is a (attribute)|
412731001 |Genetic finding detected (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16418230025) - 1100941000168100 -> 405824009 (363714003) View

363714003 |Interprets (attribute)|
405824009 |Genetic test (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16418231026) - 1100941000168100 -> 260373001 (363713009) View

363713009 |Has interpretation (attribute)|
260373001 |Detected (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

412731001 View

412731001
Genetic finding detected (finding)
Genetic finding detected
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (f870b704-86cc-56ba-9ece-a8afd0e0d2c4) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
-
TRUE
MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447638001 |Map source concept cannot be classified with available data (foundation metadata concept)|
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