dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 764812008

Production

add

Component

764812008

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)

Shortest Term

Syne1-related arthrogryposis multiplex congenita

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

Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)

SCTID: 764812008, Primitive, Active

764812008|Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)|

en Autosomal recessive myogenic arthrogryposis multiplex congenita
en Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)
en Syne1-related arthrogryposis multiplex congenita
en Syne1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita

Expression

764812008 |Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)|
 <<< 28204005 |Inherited arthrogryposis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
111501005 |Congenital hereditary muscular dystrophy (disorder)| + 
205402004 |Arthrogryposis multiplex congenita (disorder)| + 
38850007 |Chronic arthropathy (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)| = 4720007 |Dystrophy (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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 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
3655189012 - Autosomal recessive myogenic arthrogryposis multiplex congenita (en) View
3655189012	en	Synonym (core metadata concept)	Autosomal recessive myogenic arthrogryposis multiplex congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3655188016 - Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) (en) View
3655188016	en	Fully specified name (core metadata concept)	Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3655190015 - SYNE1-related arthrogryposis multiplex congenita (en) View
3655190015	en	Synonym (core metadata concept)	SYNE1-related arthrogryposis multiplex congenita	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3655191016 - SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita (en) View
3655191016	en	Synonym (core metadata concept)	SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16198007021) - 764812008 -> 38850007 (116680003) View
116680003 \|Is a (attribute)\|	38850007 \|Chronic arthropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198008027) - 764812008 -> 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 (16198009024) - 764812008 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199230024) - 764812008 -> 77016009 (116680003) View
116680003 \|Is a (attribute)\|	77016009 \|Amyoplasia congenita disruptive sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15507921022) - 764812008 -> 205402004 (116680003) View
116680003 \|Is a (attribute)\|	205402004 \|Arthrogryposis multiplex congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199232027) - 764812008 -> 240059009 (116680003) View
116680003 \|Is a (attribute)\|	240059009 \|Congenital muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224232024) - 764812008 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11283917022) - 764812008 -> 111501005 (116680003) View
116680003 \|Is a (attribute)\|	111501005 \|Congenital hereditary muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11440516024) - 764812008 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11440517026) - 764812008 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512060021) - 764812008 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577762029) - 764812008 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199234026) - 764812008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202624026) - 764812008 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9211390025) - 764812008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224225026) - 764812008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224229021) - 764812008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224230027) - 764812008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529273022) - 764812008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529274027) - 764812008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199229025) - 764812008 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199231023) - 764812008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224226025) - 764812008 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224227023) - 764812008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224228029) - 764812008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224231028) - 764812008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224233025) - 764812008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	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
111501005 View
111501005	Congenital hereditary muscular dystrophy (disorder)	Benign congenital myopathy	900000000000073002 \|Sufficiently defined by necessary conditions 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
38850007 View
38850007	Chronic arthropathy (disorder)	Bệnh khớp mạn tính	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

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 (aa72f89d-677a-5002-8b57-08e4255651e8) 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)\|

Terminology chevron_right Concepts chevron_right 764812008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches