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Terminology chevron_right Concepts chevron_right 230249003

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Component

230249003

The component that hold information about this concept.

Fully Specified Name (FSN)

Facioscapulohumeral spinal muscular atrophy (disorder)

Shortest Term

Facioscapulohumeral spinal muscular atrophy

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

Facioscapulohumeral spinal muscular atrophy (disorder)

SCTID: 230249003, Primitive, Active

230249003|Facioscapulohumeral spinal muscular atrophy (disorder)|

en Facioscapulohumeral spinal muscular atrophy
en Facioscapulohumeral spinal muscular atrophy (disorder)

Expression

230249003 |Facioscapulohumeral spinal muscular atrophy (disorder)|
 <<< 5262007 |Spinal muscular atrophy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
345062013 - Facioscapulohumeral spinal muscular atrophy (en) View
345062013	en	Synonym (core metadata concept)	Facioscapulohumeral spinal muscular atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
618031010 - Facioscapulohumeral spinal muscular atrophy (disorder) (en) View
618031010	en	Fully specified name (core metadata concept)	Facioscapulohumeral spinal muscular atrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16085265022) - 230249003 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2252780028) - 230249003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (447691021) - 230249003 -> 31513005 (363698007) View
363698007 \|Finding site (attribute)\|	31513005 \|Motor neuron (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (447690022) - 230249003 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (40599028) - 230249003 -> 5262007 (116680003) View
116680003 \|Is a (attribute)\|	5262007 \|Spinal muscular atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
5262007 View
5262007	Spinal muscular atrophy (disorder)	Spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
230250003 View
230250003	Facioscapulohumeral spinal muscular atrophy with sensory loss (disorder)	Davidenkow syndrome	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 (95981db2-cff3-5b63-9bc5-8c80be7a8501) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.8	TRUE	ALWAYS G12.8	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)\|
ExtendedMap object (fd7f4984-e5a8-5913-bbea-a9dda0a1acb1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.1	TRUE	ALWAYS G12.1	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)\|

Terminology chevron_right Concepts chevron_right 230249003

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