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Terminology chevron_right Concepts chevron_right 711265009

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Component

711265009

The component that hold information about this concept.

Fully Specified Name (FSN)

Caveolin 3 related distal myopathy (disorder)

Shortest Term

Cav3-related distal myopathy

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

Caveolin 3 related distal myopathy (disorder)

SCTID: 711265009, Primitive, Active

711265009|Caveolin 3 related distal myopathy (disorder)|

en Caveolin 3 related distal myopathy
en Caveolin 3 related distal myopathy (disorder)
en Cav3-related distal myopathy
en Distal myopathy, tateyama type

Expression

711265009 |Caveolin 3 related distal myopathy (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
75047002 |Disorder of skeletal muscle (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3075721010 - Caveolin 3 related distal myopathy (en) View
3075721010	en	Synonym (core metadata concept)	Caveolin 3 related distal myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3075460011 - Caveolin 3 related distal myopathy (disorder) (en) View
3075460011	en	Fully specified name (core metadata concept)	Caveolin 3 related distal myopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3075704018 - CAV3-related distal myopathy (en) View
3075704018	en	Synonym (core metadata concept)	CAV3-related distal myopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3075994019 - Distal myopathy, Tateyama type (en) View
3075994019	en	Synonym (core metadata concept)	Distal myopathy, Tateyama type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6225867020) - 711265009 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6225864029) - 711265009 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6225865028) - 711265009 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6225866027) - 711265009 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions 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

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 (7d8ee30e-316b-585b-974f-7beb9c1e334c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.0	TRUE	ALWAYS G71.0	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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