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Terminology chevron_right Concepts chevron_right 240104008

Production

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Component

240104008

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital myotonic dystrophy (disorder)

Shortest Term

Congenital myotonic dystrophy

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital myotonic dystrophy (disorder)

SCTID: 240104008, Defined, Active

240104008|Congenital myotonic dystrophy (disorder)|

en Congenital-onset myotonic dystrophy type 1
en Congenital-onset steinert disease
en Congenital-onset steinert myotonic dystrophy
en Congenital myotonic dystrophy
en Congenital myotonic dystrophy (disorder)

Expression

240104008 |Congenital myotonic dystrophy (disorder)|
 === 111501005 |Congenital hereditary muscular dystrophy (disorder)| + 
77956009 |Steinert myotonic dystrophy syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5459568012 - Congenital-onset myotonic dystrophy type 1 (en) View
5459568012	en	Synonym (core metadata concept)	Congenital-onset myotonic dystrophy type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5459569016 - Congenital-onset Steinert disease (en) View
5459569016	en	Synonym (core metadata concept)	Congenital-onset Steinert disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5459567019 - Congenital-onset Steinert myotonic dystrophy (en) View
5459567019	en	Synonym (core metadata concept)	Congenital-onset Steinert myotonic dystrophy	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
359716010 - Congenital myotonic dystrophy (en) View
359716010	en	Synonym (core metadata concept)	Congenital myotonic dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
629203015 - Congenital myotonic dystrophy (disorder) (en) View
629203015	en	Fully specified name (core metadata concept)	Congenital myotonic dystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (56902024) - 240104008 -> 77956009 (116680003) View
116680003 \|Is a (attribute)\|	77956009 \|Steinert myotonic dystrophy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893405028) - 240104008 -> 1177122009 (116680003) View
116680003 \|Is a (attribute)\|	1177122009 \|Myotonic dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (535523029) - 240104008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1657579027) - 240104008 -> 193237003 (116680003) View
116680003 \|Is a (attribute)\|	193237003 \|Myotonic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2534000020) - 240104008 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14893406027) - 240104008 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893407020) - 240104008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893532020) - 240104008 -> 111501005 (116680003) View
116680003 \|Is a (attribute)\|	111501005 \|Congenital hereditary muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (535521027) - 240104008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2575942020) - 240104008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010609028) - 240104008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010610022) - 240104008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (56901028) - 240104008 -> 52794005 (116680003) View
116680003 \|Is a (attribute)\|	52794005 \|Myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (535520026) - 240104008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (535522023) - 240104008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111501005 View
111501005	Congenital hereditary muscular dystrophy (disorder)	Benign congenital myopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
77956009 View
77956009	Steinert myotonic dystrophy syndrome (disorder)	Steinert disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c59ef48f-287b-51d9-81c6-467d26f465d2) 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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