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Terminology chevron_right Concepts chevron_right 129622008

Production

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Component

129622008

The component that hold information about this concept.

Fully Specified Name (FSN)

Nemaline myopathy, late onset type (disorder)

Shortest Term

Adult-onset nemaline 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, late onset type (disorder)

SCTID: 129622008, Primitive, Active

129622008|Nemaline myopathy, late onset type (disorder)|

en Adult-onset nemaline myopathy
en Nemaline myopathy, late onset type
en Nemaline myopathy, late onset type (disorder)

Expression

129622008 |Nemaline myopathy, late onset type (disorder)|
 <<< 75072002 |Nemaline myopathy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 41847000 |Adulthood (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4695200018 - Adult-onset nemaline myopathy (en) View
4695200018	en	Synonym (core metadata concept)	Adult-onset nemaline myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
208443016 - Nemaline myopathy, late onset type (en) View
208443016	en	Synonym (core metadata concept)	Nemaline myopathy, late onset type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
733778012 - Nemaline myopathy, late onset type (disorder) (en) View
733778012	en	Fully specified name (core metadata concept)	Nemaline myopathy, late onset type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10527374022) - 129622008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527375023) - 129622008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527376024) - 129622008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15026969026) - 129622008 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3314926025) - 129622008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975829028) - 129622008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975830022) - 129622008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4986326027) - 129622008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1800136026) - 129622008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1019649025) - 129622008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1800135027) - 129622008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3314925026) - 129622008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (349919025) - 129622008 -> 75072002 (116680003) View
116680003 \|Is a (attribute)\|	75072002 \|Nemaline myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
75072002 View
75072002	Nemaline myopathy (disorder)	Rod myopathy	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 (d665413f-88fb-5c51-a94d-eb68a20ec0c9) 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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