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Terminology chevron_right Concepts chevron_right 717192003

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Component

717192003

The component that hold information about this concept.

Fully Specified Name (FSN)

Familial digital arthropathy and brachydactyly syndrome (disorder)

Shortest Term

Familial digital arthropathy and brachydactyly 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

Familial digital arthropathy and brachydactyly syndrome (disorder)

SCTID: 717192003, Primitive, Active

717192003|Familial digital arthropathy and brachydactyly syndrome (disorder)|

en Familial digital arthropathy and brachydactyly syndrome
en Familial digital arthropathy and brachydactyly syndrome (disorder)

Expression

717192003 |Familial digital arthropathy and brachydactyly syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
43476002 |Brachydactyly (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
428360003 |Arthropathy of joint of hand (disorder)| + 
299055007 |Finding of musculoskeletal structure of digit of hand (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 82680008 |Digit structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 304575007 |Structure of joint of digit of hand (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3308650019 - Familial digital arthropathy and brachydactyly syndrome (en) View
3308650019	en	Synonym (core metadata concept)	Familial digital arthropathy and brachydactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3308649019 - Familial digital arthropathy and brachydactyly syndrome (disorder) (en) View
3308649019	en	Fully specified name (core metadata concept)	Familial digital arthropathy and brachydactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069657022) - 717192003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575002021) - 717192003 -> 304575007 (363698007) View
363698007 \|Finding site (attribute)\|	304575007 \|Structure of joint of digit of hand (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6575003027) - 717192003 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6575004022) - 717192003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6575005023) - 717192003 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528858023) - 717192003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528860020) - 717192003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539405020) - 717192003 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539406021) - 717192003 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539407028) - 717192003 -> 304575007 (363698007) View
363698007 \|Finding site (attribute)\|	304575007 \|Structure of joint of digit of hand (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539408022) - 717192003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11178297020) - 717192003 -> 299055007 (116680003) View
116680003 \|Is a (attribute)\|	299055007 \|Finding of musculoskeletal structure of digit of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6574999029) - 717192003 -> 43476002 (116680003) View
116680003 \|Is a (attribute)\|	43476002 \|Brachydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6597746025) - 717192003 -> 403855001 (116680003) View
116680003 \|Is a (attribute)\|	403855001 \|Congenital anomaly of digit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6597747023) - 717192003 -> 716638009 (116680003) View
116680003 \|Is a (attribute)\|	716638009 \|Longitudinal deficiency of part of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6574998021) - 717192003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575000029) - 717192003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575001025) - 717192003 -> 428360003 (116680003) View
116680003 \|Is a (attribute)\|	428360003 \|Arthropathy of joint of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
428360003 View
428360003	Arthropathy of joint of hand (disorder)	Disorder of joint of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
43476002 View
43476002	Brachydactyly (disorder)	Brachydactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
299055007 View
299055007	Finding of musculoskeletal structure of digit of hand (finding)	Finding of musculoskeletal structure of digit of hand	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
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal 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 (17d163f0-5334-5d90-868d-961634824a51) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M06.8	TRUE	ALWAYS M06.8 \| FIFTH CHARACTER REQUIRED TO FURTHER SPECIFY THE SITE	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 (8d15d929-0767-51c8-a534-a52d3877f7b1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M13.94	TRUE	ALWAYS M13.94	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 (b4aff0fd-2bdd-524e-a41c-9e147313f099) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q73.8	TRUE	ALWAYS Q73.8	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 (eaa99570-319f-5612-ab56-187d37c039fb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M13.9	TRUE	ALWAYS M13.9 \| FIFTH CHARACTER REQUIRED TO FURTHER SPECIFY THE SITE	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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