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Terminology chevron_right Concepts chevron_right 897570002

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Component

897570002

The component that hold information about this concept.

Fully Specified Name (FSN)

Distal arthrogryposis type 3 (disorder)

Shortest Term

Gordon syndrome

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

Distal arthrogryposis type 3 (disorder)

SCTID: 897570002, Primitive, Active

897570002|Distal arthrogryposis type 3 (disorder)|

en Camptodactyly, cleft palate, clubfoot syndrome
en Distal arthrogryposis type iia
en Gordon syndrome
en Distal arthrogryposis type 3
en Distal arthrogryposis type 3 (disorder)

Expression

897570002 |Distal arthrogryposis type 3 (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
24269006 |Distal arthrogryposis syndrome (disorder)| + 
28204005 |Inherited arthrogryposis (disorder)| + 
87979003 |Cleft palate (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72914001 |Palatal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (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
5171584014 - Camptodactyly, cleft palate, clubfoot syndrome (en) View
5171584014	en	Synonym (core metadata concept)	Camptodactyly, cleft palate, clubfoot syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5171585010 - Distal arthrogryposis type IIA (en) View
5171585010	en	Synonym (core metadata concept)	Distal arthrogryposis type IIA	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5171586011 - Gordon syndrome (en) View
5171586011	en	Synonym (core metadata concept)	Gordon syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4034347013 - Distal arthrogryposis type 3 (en) View
4034347013	en	Synonym (core metadata concept)	Distal arthrogryposis type 3	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4034345017 - Distal arthrogryposis type 3 (disorder) (en) View
4034345017	en	Fully specified name (core metadata concept)	Distal arthrogryposis type 3 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16198069021) - 897570002 -> 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 (16198070022) - 897570002 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280663027) - 897570002 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15507989021) - 897570002 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15508022026) - 897570002 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15508023020) - 897570002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085121025) - 897570002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13085132025) - 897570002 -> 272679001 (363698007) View
363698007 \|Finding site (attribute)\|	272679001 \|Bone structure of head (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13085133024) - 897570002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13085134029) - 897570002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13085135028) - 897570002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13085117021) - 897570002 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085118027) - 897570002 -> 87979003 (116680003) View
116680003 \|Is a (attribute)\|	87979003 \|Cleft palate (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085119024) - 897570002 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085120029) - 897570002 -> 24269006 (116680003) View
116680003 \|Is a (attribute)\|	24269006 \|Distal arthrogryposis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085122021) - 897570002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085123027) - 897570002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085124022) - 897570002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085125023) - 897570002 -> 72914001 (363698007) View
363698007 \|Finding site (attribute)\|	72914001 \|Palatal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085126024) - 897570002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085127026) - 897570002 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085128020) - 897570002 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085129028) - 897570002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085130022) - 897570002 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13085131021) - 897570002 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28204005 View
28204005	Inherited arthrogryposis (disorder)	Inherited arthrogryposis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
24269006 View
24269006	Distal arthrogryposis syndrome (disorder)	Distal arthrogryposis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
87979003 View
87979003	Cleft palate (disorder)	Hở hàm ếch	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (1c4e038d-613d-59ef-ba71-46add22ec9da) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q68.8	TRUE	ALWAYS Q68.8 \| 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)\|

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