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Terminology chevron_right Concepts chevron_right 75072002

Production

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Component

75072002

The component that hold information about this concept.

Fully Specified Name (FSN)

Nemaline myopathy (disorder)

Shortest Term

Rod 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

Nemaline myopathy (disorder)

SCTID: 75072002, Primitive, Active

75072002|Nemaline myopathy (disorder)|

en Nemaline body disease
en Nemaline myopathy
en Nemaline myopathy (disorder)
en Rod-body myopathy
en Rod myopathy

Expression

75072002 |Nemaline myopathy (disorder)|
 <<< 75047002 |Disorder of skeletal muscle (disorder)| + 
782964007 |Genetic disease (disorder)| + 
26544005 |Muscle weakness (finding)| : 
        { 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
124689016 - Nemaline body disease (en) View
124689016	en	Synonym (core metadata concept)	Nemaline body disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
124688012 - Nemaline myopathy (en) View
124688012	en	Synonym (core metadata concept)	Nemaline myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
815641013 - Nemaline myopathy (disorder) (en) View
815641013	en	Fully specified name (core metadata concept)	Nemaline myopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
502903015 - Rod-body myopathy (en) View
502903015	en	Synonym (core metadata concept)	Rod-body myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
124690013 - Rod myopathy (en) View
124690013	en	Synonym (core metadata concept)	Rod myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (1681944023) - 75072002 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1681945024) - 75072002 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522851020) - 75072002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522852029) - 75072002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522853023) - 75072002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15026971026) - 75072002 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15026983029) - 75072002 -> 26544005 (116680003) View
116680003 \|Is a (attribute)\|	26544005 \|Muscle weakness (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3344142029) - 75072002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976221027) - 75072002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976222023) - 75072002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4986654025) - 75072002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1777596029) - 75072002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (861276024) - 75072002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1777597022) - 75072002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3344141020) - 75072002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (270070023) - 75072002 -> 18148005 (116680003) View
116680003 \|Is a (attribute)\|	18148005 \|Congenital myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
26544005 View
26544005	Muscle weakness (finding)	Yếu cơ	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1197154006 View
1197154006	Childhood-onset nemaline myopathy (disorder)	Mild nemaline myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129621001 View
129621001	Nemaline myopathy, early onset type (disorder)	Congenital nemaline myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129622008 View
129622008	Nemaline myopathy, late onset type (disorder)	Adult-onset nemaline myopathy	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 (9a545969-4dea-5b63-bba7-2ec55d4bbc77) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2	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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