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Terminology chevron_right Concepts chevron_right 1187132007

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Component

1187132007

The component that hold information about this concept.

Fully Specified Name (FSN)

Sugarman brachydactyly (disorder)

Shortest Term

Sugarman brachydactyly

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

Sugarman brachydactyly (disorder)

SCTID: 1187132007, Primitive, Active

1187132007|Sugarman brachydactyly (disorder)|

en Sugarman brachydactyly
en Sugarman brachydactyly (disorder)
en Sugarman hager kulik syndrome

Expression

1187132007 |Sugarman brachydactyly (disorder)|
 <<< 205351000 |Perodactylia of great toe (disorder)| + 
20948006 |Congenital anomaly of finger (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
43476002 |Brachydactyly (disorder)| + 
716636008 |Longitudinal deficiency of part of upper limb (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
109420003 |Dysostosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
1230354001 |Congenital deformity of hand (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
897432004 |Structural abnormality of bone of limb (disorder)| + 
897433009 |Structural abnormality of long bone (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 7569003 |Finger structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78883009 |Great toe structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 28641004 |Phalanx 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
4670055018 - Sugarman brachydactyly (en) View
4670055018	en	Synonym (core metadata concept)	Sugarman brachydactyly	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4670054019 - Sugarman brachydactyly (disorder) (en) View
4670054019	en	Fully specified name (core metadata concept)	Sugarman brachydactyly (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4670056017 - Sugarman Hager Kulik syndrome (en) View
4670056017	en	Synonym (core metadata concept)	Sugarman Hager Kulik syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379536026) - 1187132007 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16379537024) - 1187132007 -> 897433009 (116680003) View
116680003 \|Is a (attribute)\|	897433009 \|Structural abnormality of long bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681447029) - 1187132007 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964182023) - 1187132007 -> 299033004 (116680003) View
116680003 \|Is a (attribute)\|	299033004 \|Deformity of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15230107026) - 1187132007 -> 1230354001 (116680003) View
116680003 \|Is a (attribute)\|	1230354001 \|Congenital deformity of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964180026) - 1187132007 -> 205351000 (116680003) View
116680003 \|Is a (attribute)\|	205351000 \|Perodactylia of great toe (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964181027) - 1187132007 -> 20948006 (116680003) View
116680003 \|Is a (attribute)\|	20948006 \|Congenital anomaly of finger (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964183029) - 1187132007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964184024) - 1187132007 -> 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 (14964185020) - 1187132007 -> 43476002 (116680003) View
116680003 \|Is a (attribute)\|	43476002 \|Brachydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964186021) - 1187132007 -> 716636008 (116680003) View
116680003 \|Is a (attribute)\|	716636008 \|Longitudinal deficiency of part of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964187028) - 1187132007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964188022) - 1187132007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964189025) - 1187132007 -> 7569003 (363698007) View
363698007 \|Finding site (attribute)\|	7569003 \|Finger structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964190023) - 1187132007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964191022) - 1187132007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964192026) - 1187132007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964193020) - 1187132007 -> 78883009 (363698007) View
363698007 \|Finding site (attribute)\|	78883009 \|Great toe structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964194025) - 1187132007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964195029) - 1187132007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964201021) - 1187132007 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964202025) - 1187132007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964203024) - 1187132007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964204029) - 1187132007 -> 28641004 (363698007) View
363698007 \|Finding site (attribute)\|	28641004 \|Phalanx structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964205028) - 1187132007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14964206027) - 1187132007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897432004 View
897432004	Structural abnormality of bone of limb (disorder)	Abnormal limb bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
897433009 View
897433009	Structural abnormality of long bone (disorder)	Abnormal long bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1230354001 View
1230354001	Congenital deformity of hand (disorder)	Congenital deformity of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716636008 View
716636008	Longitudinal deficiency of part of upper limb (disorder)	Congenital shortening of part of upper limb	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
205351000 View
205351000	Perodactylia of great toe (disorder)	Perodactylia of great toe	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
20948006 View
20948006	Congenital anomaly of finger (disorder)	Congenital anomaly of finger	900000000000073002 \|Sufficiently defined by necessary conditions 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	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 (eb2a8e28-f150-52b4-98e9-ed866f3e9d5f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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