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Terminology chevron_right Concepts chevron_right 716696006

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716696006
The component that hold information about this concept.
Autosomal dominant centronuclear myopathy (disorder)
Autosomal dominant centronuclear myopathy
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

Autosomal dominant centronuclear myopathy (disorder)

SCTID: 716696006, Primitive, Active


716696006|Autosomal dominant centronuclear myopathy (disorder)|
  • en Autosomal dominant centronuclear myopathy
  • en Autosomal dominant centronuclear myopathy (disorder)

716696006 |Autosomal dominant centronuclear myopathy (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    82077006 |Myotubular myopathy (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    363070008 |Developmental hereditary disorder (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

3307232015 - Autosomal dominant centronuclear myopathy (en) View

3307232015
en
Synonym (core metadata concept)
Autosomal dominant centronuclear myopathy
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3307231010 - Autosomal dominant centronuclear myopathy (disorder) (en) View

3307231010
en
Fully specified name (core metadata concept)
Autosomal dominant centronuclear myopathy (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (13069647021) - 716696006 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594719028) - 716696006 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10525448025) - 716696006 -> 308490002 (370135005) View

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

Relationship (10525449022) - 716696006 -> 49755003 (116676008) View

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

Relationship (6594716024) - 716696006 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594717026) - 716696006 -> 82077006 (116680003) View

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

Relationship (6594718020) - 716696006 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594720023) - 716696006 -> 255399007 (246454002) View

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

Relationship (6594721022) - 716696006 -> 127954009 (363698007) View

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

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
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

363212003 View

363212003
Hereditary disorder of musculoskeletal system (disorder)
Hereditary disorder of musculoskeletal system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (3f571b23-0772-55cc-a96f-90050c800233) 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