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Terminology chevron_right Concepts chevron_right 1172689007

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Component

1172689007

The component that hold information about this concept.

Fully Specified Name (FSN)

Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)

Shortest Term

Prenatal-onset spinal muscular atrophy with congenital bone fractures

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

Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)

SCTID: 1172689007, Primitive, Active

1172689007|Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)|

en Prenatal-onset spinal muscular atrophy with congenital bone fractures
en Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)

Expression

1172689007 |Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)|
 <<< 128239009 |Injury of nervous system (disorder)| + 
28204005 |Inherited arthrogryposis (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
37340000 |Motor neuron disease (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
788192009 |Fracture of multiple bones (disorder)| + 
205402004 |Arthrogryposis multiplex congenita (disorder)| + 
125610000 |Joint injury (disorder)| + 
897433009 |Structural abnormality of long bone (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 785818007 |Structure of joint region (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 771485007 |Fracture of multiple bones (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113193004 |Structure of long bone (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 364564000 |Range of joint movement (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 773190007 |Joint structure of multiple body sites (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4635377016 - Prenatal-onset spinal muscular atrophy with congenital bone fractures (en) View
4635377016	en	Synonym (core metadata concept)	Prenatal-onset spinal muscular atrophy with congenital bone fractures	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4635376013 - Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) (en) View
4635376013	en	Fully specified name (core metadata concept)	Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379534028) - 1172689007 -> 897433009 (116680003) View
116680003 \|Is a (attribute)\|	897433009 \|Structural abnormality of long bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012613027) - 1172689007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16198071021) - 1172689007 -> 125610000 (116680003) View
116680003 \|Is a (attribute)\|	125610000 \|Joint injury (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198072025) - 1172689007 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198073024) - 1172689007 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507961023) - 1172689007 -> 205402004 (116680003) View
116680003 \|Is a (attribute)\|	205402004 \|Arthrogryposis multiplex congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012611025) - 1172689007 -> 128239009 (116680003) View
116680003 \|Is a (attribute)\|	128239009 \|Injury of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012612021) - 1172689007 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012614022) - 1172689007 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012615023) - 1172689007 -> 37340000 (116680003) View
116680003 \|Is a (attribute)\|	37340000 \|Motor neuron disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012616024) - 1172689007 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012617026) - 1172689007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012618020) - 1172689007 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012619028) - 1172689007 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012620023) - 1172689007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012621022) - 1172689007 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012622026) - 1172689007 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012623020) - 1172689007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012624025) - 1172689007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012625029) - 1172689007 -> 113193004 (363698007) View
363698007 \|Finding site (attribute)\|	113193004 \|Structure of long bone (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012627021) - 1172689007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012628027) - 1172689007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012629024) - 1172689007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012633028) - 1172689007 -> 788192009 (116680003) View
116680003 \|Is a (attribute)\|	788192009 \|Fracture of multiple bones (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14012634023) - 1172689007 -> 771485007 (116676008) View
116676008 \|Associated morphology (attribute)\|	771485007 \|Fracture of multiple bones (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897433009 View
897433009	Structural abnormality of long bone (disorder)	Abnormal long bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205402004 View
205402004	Arthrogryposis multiplex congenita (disorder)	Multiple congenital arthrogryposis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
788192009 View
788192009	Fracture of multiple bones (disorder)	Fracture of multiple bones	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37340000 View
37340000	Motor neuron disease (disorder)	Motor neuron disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28204005 View
28204005	Inherited arthrogryposis (disorder)	Inherited arthrogryposis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
125610000 View
125610000	Joint injury (disorder)	Joint injury	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128239009 View
128239009	Injury of nervous system (disorder)	Neurological injury	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (96e03b20-ab6b-5dab-aef0-890bd858301f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.8	TRUE	ALWAYS G12.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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 (9fa210b4-ee1f-5aed-b7ed-5d5126a7a7d1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.2	TRUE	ALWAYS G12.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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