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Terminology chevron_right Concepts chevron_right 1100931000168109

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1100931000168109
The component that hold information about this concept.
Maternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)
Maternally 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

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

SCTID: 1100931000168109, Primitive, Active


1100931000168109|Maternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)|
  • en Maternally inherited sdhd gene mutation detected
  • en Maternally inherited succinate dehydrogenase complex subunit d gene mutation detected
  • en Maternally inherited succinate dehydrogenase complex subunit d gene mutation detected (finding)
  • en Mutation of succinate dehydrogenase complex subunit d gene inherited from mother

1100931000168109 |Maternally 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

5473693014 - Maternally inherited SDHD gene mutation detected (en) View

5473693014
en
Synonym (core metadata concept)
Maternally inherited SDHD gene mutation detected
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

135772251000036110 - Maternally inherited succinate dehydrogenase complex subunit D gene mutation detected (en) View

135772251000036110
en
Synonym (core metadata concept)
Maternally inherited succinate dehydrogenase complex subunit D gene mutation detected
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

660377781000036119 - Maternally inherited succinate dehydrogenase complex subunit D gene mutation detected (finding) (en) View

660377781000036119
en
Fully specified name (core metadata concept)
Maternally inherited succinate dehydrogenase complex subunit D gene mutation detected (finding)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

2280861000168111 - Mutation of succinate dehydrogenase complex subunit D gene inherited from mother (en) View

2280861000168111
en
Synonym (core metadata concept)
Mutation of succinate dehydrogenase complex subunit D gene inherited from mother
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (16418226028) - 1100931000168109 -> 412731001 (116680003) View

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

Relationship (16418227021) - 1100931000168109 -> 405824009 (363714003) View

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

Relationship (16418228027) - 1100931000168109 -> 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 (545ddcee-6c31-5177-ae9b-170c26947e15) 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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