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Terminology chevron_right Concepts chevron_right 5262007

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Component

5262007

The component that hold information about this concept.

Fully Specified Name (FSN)

Spinal muscular atrophy (disorder)

Shortest Term

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

Spinal muscular atrophy (disorder)

SCTID: 5262007, Primitive, Active

5262007|Spinal muscular atrophy (disorder)|

en Progressive spinal muscular atrophy
en Spinal muscular atrophy
en Spinal muscular atrophy (disorder)
en Sma - spinal muscular atrophy

Expression

5262007 |Spinal muscular atrophy (disorder)|
 <<< 49793008 |Hereditary motor neuron disease (disorder)| + 
84590007 |Lower motor neuron disease (disorder)| + 
128283000 |Chronic nervous system disorder (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
5372774010 - Progressive spinal muscular atrophy (en) View
5372774010	en	Synonym (core metadata concept)	Progressive spinal muscular atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
9822014 - Spinal muscular atrophy (en) View
9822014	en	Synonym (core metadata concept)	Spinal muscular atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
790650015 - Spinal muscular atrophy (disorder) (en) View
790650015	en	Fully specified name (core metadata concept)	Spinal muscular atrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1231128013 - SMA - Spinal muscular atrophy (en) View
1231128013	en	Synonym (core metadata concept)	SMA - Spinal muscular atrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
9823016 - Spinal muscular atrophy, NOS (en) View
9823016	en	Synonym (core metadata concept)	Spinal muscular atrophy, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16085258025) - 5262007 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16085259022) - 5262007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2267870028) - 5262007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (233677029) - 5262007 -> 230244008 (116680003) View
116680003 \|Is a (attribute)\|	230244008 \|Disorder primarily affecting the motor pathways (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (524464023) - 5262007 -> 31513005 (363698007) View
363698007 \|Finding site (attribute)\|	31513005 \|Motor neuron (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (524462022) - 5262007 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (233676022) - 5262007 -> 49793008 (116680003) View
116680003 \|Is a (attribute)\|	49793008 \|Hereditary motor neuron disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (233678023) - 5262007 -> 84590007 (116680003) View
116680003 \|Is a (attribute)\|	84590007 \|Lower motor neuron disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
49793008 View
49793008	Hereditary motor neuron disease (disorder)	Familial motor neuron disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84590007 View
84590007	Lower motor neuron disease (disorder)	Lower motor neuron disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1142327006 View
1142327006	Proximal spinal muscular atrophy (disorder)	Proximal spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1142330004 View
1142330004	Segmental spinal muscular atrophy (disorder)	Segmental spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783618006 View
783618006	Lower motor neuron syndrome with late-adult onset (disorder)	Lower motor neuron syndrome with late-adult onset	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784391002 View
784391002	Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)	Finkel disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771238004 View
771238004	Spinal atrophy, ophthalmoplegia, pyramidal syndrome (disorder)	Hamano tsukamoto syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
772129007 View
772129007	Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)	Spinal muscular atrophy with lower extremity predominance	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719836007 View
719836007	X-linked distal arthrogryposis multiplex congenita (disorder)	X-linked spinal muscular atrophy type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703524005 View
703524005	Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Jankovic-rivera syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54280009 View
54280009	Kugelberg-welander disease (disorder)	Sma3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64383006 View
64383006	Werdnig-hoffmann disease (disorder)	Werdnig-hoffmann disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85505000 View
85505000	Adult spinal muscular atrophy (disorder)	Adult spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128212001 View
128212001	Spinal muscular atrophy, type ii (disorder)	Sma2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230246005 View
230246005	Progressive bulbar palsy of childhood (disorder)	Fazio-londe syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230247001 View
230247001	Distal spinal muscular atrophy (disorder)	Distal spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230248006 View
230248006	Scapuloperoneal spinal muscular atrophy (disorder)	Scapuloperoneal spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230249003 View
230249003	Facioscapulohumeral spinal muscular atrophy (disorder)	Facioscapulohumeral spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230251004 View
230251004	Scapulohumeral spinal muscular atrophy (disorder)	Scapulohumeral spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230252006 View
230252006	Oculopharyngeal spinal muscular atrophy (disorder)	Oculopharyngeal spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230253001 View
230253001	Bulbospinal neuronopathy (disorder)	Kennedy 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 (0420e76e-5882-5e3e-aed1-8436cfb90ec7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.9	TRUE	ALWAYS G12.9	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 5262007

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