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Terminology chevron_right Concepts chevron_right 719950001

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Component

719950001

The component that hold information about this concept.

Fully Specified Name (FSN)

Triphalangeal thumb and polysyndactyly syndrome (disorder)

Shortest Term

Triphalangeal thumb and polysyndactyly 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

Triphalangeal thumb and polysyndactyly syndrome (disorder)

SCTID: 719950001, Primitive, Active

719950001|Triphalangeal thumb and polysyndactyly syndrome (disorder)|

en Triphalangeal thumb and polysyndactyly syndrome
en Triphalangeal thumb and polysyndactyly syndrome (disorder)

Expression

719950001 |Triphalangeal thumb and polysyndactyly syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
84598000 |Polysyndactyly (disorder)| + 
205308004 |Triphalangeal thumb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 91431006 |Supernumerary structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 2550002 |Bone structure of phalanx of thumb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1297033003 |Abnormally fused structure (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3318562015 - Triphalangeal thumb and polysyndactyly syndrome (en) View
3318562015	en	Synonym (core metadata concept)	Triphalangeal thumb and polysyndactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3318561010 - Triphalangeal thumb and polysyndactyly syndrome (disorder) (en) View
3318561010	en	Fully specified name (core metadata concept)	Triphalangeal thumb and polysyndactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6646391025) - 719950001 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15840349020) - 719950001 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644682020) - 719950001 -> 81330005 (116680003) View
116680003 \|Is a (attribute)\|	81330005 \|Polysyndactyly syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13067049029) - 719950001 -> 84598000 (116680003) View
116680003 \|Is a (attribute)\|	84598000 \|Polysyndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13067050029) - 719950001 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069199022) - 719950001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10537747026) - 719950001 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11471649024) - 719950001 -> 2550002 (363698007) View
363698007 \|Finding site (attribute)\|	2550002 \|Bone structure of phalanx of thumb (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11471650024) - 719950001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644688024) - 719950001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646393027) - 719950001 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646394022) - 719950001 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10514738021) - 719950001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514739029) - 719950001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514740027) - 719950001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10537746024) - 719950001 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644681029) - 719950001 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644683026) - 719950001 -> 205308004 (116680003) View
116680003 \|Is a (attribute)\|	205308004 \|Triphalangeal thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644685022) - 719950001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6646392021) - 719950001 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	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
205308004 View
205308004	Triphalangeal thumb (disorder)	Triphalangeal thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
84598000 View
84598000	Polysyndactyly (disorder)	Polysyndactyly	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
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	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 (1bd7e341-546c-5d88-964f-6c003f28d426) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.8	TRUE	ALWAYS Q74.8	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)\|

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