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Terminology chevron_right Concepts chevron_right 715565004

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Component

715565004

The component that hold information about this concept.

Fully Specified Name (FSN)

Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

Shortest Term

Vuopala disease

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

Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

SCTID: 715565004, Primitive, Active

715565004|Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)|

en Lethal arthrogryposis co-occurrent with anterior horn cell disease
en Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
en Lethal arthrogryposis with anterior horn cell disease
en Vuopala disease

Expression

715565004 |Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)|
 <<< 363235000 |Hereditary disorder of nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
85672005 |Anterior horn cell disease (disorder)| + 
205402004 |Arthrogryposis multiplex congenita (disorder)| + 
28204005 |Inherited arthrogryposis (disorder)| : 
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 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)| }
        { 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
3303041018 - Lethal arthrogryposis co-occurrent with anterior horn cell disease (en) View
3303041018	en	Synonym (core metadata concept)	Lethal arthrogryposis co-occurrent with anterior horn cell disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3303040017 - Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) (en) View
3303040017	en	Fully specified name (core metadata concept)	Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3303042013 - Lethal arthrogryposis with anterior horn cell disease (en) View
3303042013	en	Synonym (core metadata concept)	Lethal arthrogryposis with anterior horn cell disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3303039019 - Vuopala disease (en) View
3303039019	en	Synonym (core metadata concept)	Vuopala disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16198053025) - 715565004 -> 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 (16198054020) - 715565004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6551049025) - 715565004 -> 77016009 (116680003) View
116680003 \|Is a (attribute)\|	77016009 \|Amyoplasia congenita disruptive sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15507910029) - 715565004 -> 205402004 (116680003) View
116680003 \|Is a (attribute)\|	205402004 \|Arthrogryposis multiplex congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507911025) - 715565004 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507912021) - 715565004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507913027) - 715565004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6551443024) - 715565004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521236021) - 715565004 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521237028) - 715565004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521238022) - 715565004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521239025) - 715565004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11439909024) - 715565004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11439911026) - 715565004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11439913028) - 715565004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11439914023) - 715565004 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569239023) - 715565004 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569240020) - 715565004 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6551445028) - 715565004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6551446027) - 715565004 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6551448026) - 715565004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6551449023) - 715565004 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552334025) - 715565004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552335029) - 715565004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6551050025) - 715565004 -> 85672005 (116680003) View
116680003 \|Is a (attribute)\|	85672005 \|Anterior horn cell disease (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
85672005 View
85672005	Anterior horn cell disease (disorder)	Bệnh tế bào sừng trước	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
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 (7d467b1a-0543-54b2-b5d0-7b9949c1476f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q68.8	TRUE	ALWAYS Q68.8	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 (973b0088-c184-5f85-85be-2c02102dee28) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.3	TRUE	ALWAYS Q74.3 \| 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 (efdb7d74-a577-513c-a9c1-1f637eb845de) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.2	TRUE	ALWAYS G12.2	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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