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Terminology chevron_right Concepts chevron_right 1177122009

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Component

1177122009

The component that hold information about this concept.

Fully Specified Name (FSN)

Myotonic dystrophy (disorder)

Shortest Term

Myotonic dystrophy

Definition Status

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

Summary

Myotonic dystrophy (disorder)

SCTID: 1177122009, Primitive, Active

1177122009|Myotonic dystrophy (disorder)|

en Dm - dystrophia myotonica
en Dystrophia myotonica
en Myotonia dystrophica
en Myotonic dystrophy
en Myotonic dystrophy (disorder)

Expression

1177122009 |Myotonic dystrophy (disorder)|
 <<< 193225000 |Hereditary progressive muscular dystrophy (disorder)| + 
193237003 |Myotonic disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
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
4643488013 - DM - dystrophia myotonica (en) View
4643488013	en	Synonym (core metadata concept)	DM - dystrophia myotonica	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4643491013 - Dystrophia myotonica (en) View
4643491013	en	Synonym (core metadata concept)	Dystrophia myotonica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4643489017 - Myotonia dystrophica (en) View
4643489017	en	Synonym (core metadata concept)	Myotonia dystrophica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4643490014 - Myotonic dystrophy (en) View
4643490014	en	Synonym (core metadata concept)	Myotonic dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4643487015 - Myotonic dystrophy (disorder) (en) View
4643487015	en	Fully specified name (core metadata concept)	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 (14893388028) - 1177122009 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893389020) - 1177122009 -> 193225000 (116680003) View
116680003 \|Is a (attribute)\|	193225000 \|Hereditary progressive muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893390027) - 1177122009 -> 193237003 (116680003) View
116680003 \|Is a (attribute)\|	193237003 \|Myotonic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893391028) - 1177122009 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893392024) - 1177122009 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893393025) - 1177122009 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14893394020) - 1177122009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
193225000 View
193225000	Hereditary progressive muscular dystrophy (disorder)	Hereditary progressive muscular dystrophy	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
193237003 View
193237003	Myotonic disorder (disorder)	Myotonic disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
715317001 View
715317001	Proximal myotonic myopathy (disorder)	Ricker disease	900000000000074008 \|Necessary but not sufficient concept 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (9f994d7c-e7e3-564f-9601-49c451228f60) 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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