dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 719951002

Production

add

Component

719951002

The component that hold information about this concept.

Fully Specified Name (FSN)

Triphalangeal thumb with brachyectrodactyly syndrome (disorder)

Shortest Term

Carnevale hernandez del castillo 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 with brachyectrodactyly syndrome (disorder)

SCTID: 719951002, Primitive, Active

719951002|Triphalangeal thumb with brachyectrodactyly syndrome (disorder)|

en Carnevale hernandez del castillo syndrome
en Triphalangeal thumb with brachyectrodactyly syndrome
en Triphalangeal thumb with brachyectrodactyly syndrome (disorder)

Expression

719951002 |Triphalangeal thumb with brachyectrodactyly syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
205308004 |Triphalangeal thumb (disorder)| + 
310798000 |Brachydactyly of hand (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 283992002 |Entire digit of hand (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3318566017 - Carnevale Hernandez del Castillo syndrome (en) View
3318566017	en	Synonym (core metadata concept)	Carnevale Hernandez del Castillo syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3318565018 - Triphalangeal thumb with brachyectrodactyly syndrome (en) View
3318565018	en	Synonym (core metadata concept)	Triphalangeal thumb with brachyectrodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3318564019 - Triphalangeal thumb with brachyectrodactyly syndrome (disorder) (en) View
3318564019	en	Fully specified name (core metadata concept)	Triphalangeal thumb with brachyectrodactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069200020) - 719951002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644695026) - 719951002 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11472556022) - 719951002 -> 2550002 (363698007) View
363698007 \|Finding site (attribute)\|	2550002 \|Bone structure of phalanx of thumb (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11472557029) - 719951002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644693022) - 719951002 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644697023) - 719951002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645795029) - 719951002 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645796028) - 719951002 -> 283992002 (363698007) View
363698007 \|Finding site (attribute)\|	283992002 \|Entire digit of hand (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645797021) - 719951002 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645798027) - 719951002 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515329029) - 719951002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515330023) - 719951002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515331022) - 719951002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515332026) - 719951002 -> 283992002 (363698007) View
363698007 \|Finding site (attribute)\|	283992002 \|Entire digit of hand (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515333020) - 719951002 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644690020) - 719951002 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644691024) - 719951002 -> 205308004 (116680003) View
116680003 \|Is a (attribute)\|	205308004 \|Triphalangeal thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644692028) - 719951002 -> 310798000 (116680003) View
116680003 \|Is a (attribute)\|	310798000 \|Brachydactyly of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644694027) - 719951002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	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
310798000 View
310798000	Brachydactyly of hand (disorder)	Brachydactyly 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 (324ecdac-8041-5bd6-bdcf-1424c75eb657) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.8	TRUE	ALWAYS Q74.8 \| 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)\|

Terminology chevron_right Concepts chevron_right 719951002

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches