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Terminology chevron_right Concepts chevron_right 57938005

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57938005
The component that hold information about this concept.
Congenital myotonia, autosomal dominant form (disorder)
Thomsen's disease
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

Congenital myotonia, autosomal dominant form (disorder)

SCTID: 57938005, Primitive, Active


57938005|Congenital myotonia, autosomal dominant form (disorder)|
  • en Congenital myotonia, autosomal dominant form
  • en Congenital myotonia, autosomal dominant form (disorder)
  • en Myotonia congenita - autosomal dominant form
  • en Thomsen myotonia congenita
  • en Thomsen's disease

57938005 |Congenital myotonia, autosomal dominant form (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    726051002 |Myotonia congenita (disorder)| :
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

498017013 - Congenital myotonia (en) View

498017013
en
Synonym (core metadata concept)
Congenital myotonia
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

96321017 - Congenital myotonia, autosomal dominant form (en) View

96321017
en
Synonym (core metadata concept)
Congenital myotonia, autosomal dominant form
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

796615016 - Congenital myotonia, autosomal dominant form (disorder) (en) View

796615016
en
Fully specified name (core metadata concept)
Congenital myotonia, autosomal dominant form (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

498019011 - Myotonia congenita (en) View

498019011
en
Synonym (core metadata concept)
Myotonia congenita
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

498018015 - Myotonia congenita - autosomal dominant form (en) View

498018015
en
Synonym (core metadata concept)
Myotonia congenita - autosomal dominant form
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

498021018 - Thomsen myotonia congenita (en) View

498021018
en
Synonym (core metadata concept)
Thomsen myotonia congenita
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

498020017 - Thomsen's disease (en) View

498020017
en
Synonym (core metadata concept)
Thomsen's disease
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (242341024) - 57938005 -> 193237003 (116680003) View

116680003 |Is a (attribute)|
193237003 |Myotonic disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2548858028) - 57938005 -> 66091009 (116680003) View

116680003 |Is a (attribute)|
66091009 |Congenital disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6913189028) - 57938005 -> 726051002 (116680003) View

116680003 |Is a (attribute)|
726051002 |Myotonia congenita (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (817587020) - 57938005 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2598358024) - 57938005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (5010872024) - 57938005 -> 255399007 (246454002) View

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

Relationship (5010873025) - 57938005 -> 127954009 (363698007) View

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

Relationship (242339023) - 57938005 -> 52794005 (116680003) View

116680003 |Is a (attribute)|
52794005 |Myopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (242340020) - 57938005 -> 11164009 (116680003) View

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

Relationship (242342028) - 57938005 -> 363212003 (116680003) View

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

726051002 View

726051002
Myotonia congenita (disorder)
Myotonia congenita
900000000000074008 |Necessary but not sufficient concept 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

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 (a95a9b70-e15a-5b42-a962-081f4a87398b) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G71.1
TRUE
ALWAYS G71.1
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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