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Terminology chevron_right Concepts chevron_right 1351274008

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1351274008
The component that hold information about this concept.
Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)
Symptomatic form of x-linked myotubular myopathy in female carrier
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

Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)

SCTID: 1351274008, Primitive, Active


1351274008|Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)|
  • en Symptomatic form of x-linked centronuclear myopathy in female carrier
  • en Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)
  • en Symptomatic form of x-linked myotubular myopathy in female carrier

1351274008 |Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)|

<<< 82077006 |Myotubular myopathy (disorder)| +
    782964007 |Genetic disease (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

5406308016 - Symptomatic form of X-linked centronuclear myopathy in female carrier (en) View

5406308016
en
Synonym (core metadata concept)
Symptomatic form of X-linked centronuclear myopathy in female carrier
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5406307014 - Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) (en) View

5406307014
en
Fully specified name (core metadata concept)
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5406306017 - Symptomatic form of X-linked myotubular myopathy in female carrier (en) View

5406306017
en
Synonym (core metadata concept)
Symptomatic form of X-linked myotubular myopathy in female carrier
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (16222924029) - 1351274008 -> 82077006 (116680003) View

116680003 |Is a (attribute)|
82077006 |Myotubular myopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16222925028) - 1351274008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16222926027) - 1351274008 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16222927020) - 1351274008 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16222928026) - 1351274008 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16222929023) - 1351274008 -> 782964007 (116680003) View

116680003 |Is a (attribute)|
782964007 |Genetic disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

782964007 View

782964007
Genetic disease (disorder)
Genetic disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

82077006 View

82077006
Myotubular myopathy (disorder)
Myotubular myopathy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (0efbe904-8776-57fe-9da7-1c48d55f4b21) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G71.2
TRUE
ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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)|
esc