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Terminology chevron_right Concepts chevron_right 773306002

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Component

773306002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital lethal myopathy compton north type (disorder)

Shortest Term

Congenital lethal myopathy compton north type

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

Congenital lethal myopathy compton north type (disorder)

SCTID: 773306002, Primitive, Active

773306002|Congenital lethal myopathy compton north type (disorder)|

en Congenital lethal myopathy compton north type
en Congenital lethal myopathy compton north type (disorder)

Expression

773306002 |Congenital lethal myopathy compton north type (disorder)|
 <<< 28204005 |Inherited arthrogryposis (disorder)| + 
205402004 |Arthrogryposis multiplex congenita (disorder)| + 
33994004 |Akinesia (finding)| + 
89886004 |Congenital anomaly of skeletal muscle (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (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)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (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)| }
        { 363698007 |Finding site (attribute)| = 1264400000 |Structure of motor nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3723063013 - Congenital lethal myopathy Compton North type (en) View
3723063013	en	Synonym (core metadata concept)	Congenital lethal myopathy Compton North type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3723064019 - Congenital lethal myopathy Compton North type (disorder) (en) View
3723064019	en	Fully specified name (core metadata concept)	Congenital lethal myopathy Compton North type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398143025) - 773306002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16398144020) - 773306002 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512141027) - 773306002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16198012022) - 773306002 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198013028) - 773306002 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594594028) - 773306002 -> 77016009 (116680003) View
116680003 \|Is a (attribute)\|	77016009 \|Amyoplasia congenita disruptive sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15507922026) - 773306002 -> 205402004 (116680003) View
116680003 \|Is a (attribute)\|	205402004 \|Arthrogryposis multiplex congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594599022) - 773306002 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11440416021) - 773306002 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11440417028) - 773306002 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512139028) - 773306002 -> 33994004 (116680003) View
116680003 \|Is a (attribute)\|	33994004 \|Akinesia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512140026) - 773306002 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594588020) - 773306002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594589028) - 773306002 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594590021) - 773306002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594591020) - 773306002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594592029) - 773306002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594593023) - 773306002 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594595027) - 773306002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594596026) - 773306002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594597024) - 773306002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10594598025) - 773306002 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205402004 View
205402004	Arthrogryposis multiplex congenita (disorder)	Multiple congenital arthrogryposis	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
33994004 View
33994004	Akinesia (finding)	Akinesia	900000000000074008 \|Necessary but not sufficient concept 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
89886004 View
89886004	Congenital anomaly of skeletal muscle (disorder)	Congenital anomaly of skeletal muscle	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 (1feb4879-4fa6-5744-91ad-9bc82f3024d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2 \| 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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