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Terminology chevron_right Concepts chevron_right 268262006

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Component

268262006

The component that hold information about this concept.

Fully Specified Name (FSN)

Acrocephalosyndactyly (disorder)

Shortest Term

Apert's 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

Acrocephalosyndactyly (disorder)

SCTID: 268262006, Primitive, Active

268262006|Acrocephalosyndactyly (disorder)|

en Acrocephalosyndactyly
en Acrocephalosyndactyly (disorder)

Expression

268262006 |Acrocephalosyndactyly (disorder)|
 <<< 373413006 |Syndactyly (disorder)| + 
782964007 |Genetic disease (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
57219006 |Craniosynostosis syndrome (disorder)| : 
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 51863000 |Joint structure of suture of skull (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
400910012 - Acrocephalosyndactyly (en) View
400910012	en	Synonym (core metadata concept)	Acrocephalosyndactyly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
660982014 - Acrocephalosyndactyly (disorder) (en) View
660982014	en	Fully specified name (core metadata concept)	Acrocephalosyndactyly (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
400911011 - Apert's syndrome (en) View
400911011	en	Synonym (core metadata concept)	Apert's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5118568028) - 268262006 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533934029) - 268262006 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839174024) - 268262006 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15840511022) - 268262006 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4999907028) - 268262006 -> 400038003 (116680003) View
116680003 \|Is a (attribute)\|	400038003 \|Congenital malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13110053026) - 268262006 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110054021) - 268262006 -> 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 (5971817021) - 268262006 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3595027025) - 268262006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5112613026) - 268262006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5118569020) - 268262006 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5971818027) - 268262006 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5971819024) - 268262006 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5971820029) - 268262006 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5971821025) - 268262006 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533933024) - 268262006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533935028) - 268262006 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533936027) - 268262006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4995432025) - 268262006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019774022) - 268262006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5971815029) - 268262006 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5971816028) - 268262006 -> 373413006 (116680003) View
116680003 \|Is a (attribute)\|	373413006 \|Syndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3565853029) - 268262006 -> 116022009 (116680003) View
116680003 \|Is a (attribute)\|	116022009 \|Multiple congenital malformations (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3595026023) - 268262006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1696936022) - 268262006 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (342582024) - 268262006 -> 312565003 (116680003) View
116680003 \|Is a (attribute)\|	312565003 \|Multisystem disorder a-b (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57219006 View
57219006	Craniosynostosis syndrome (disorder)	Craniostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
373413006 View
373413006	Syndactyly (disorder)	Syndactyly	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
709105005 View
709105005	Jackson-weiss syndrome (disorder)	Jackson-weiss syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70410008 View
70410008	Acrocephalosyndactyly type v (disorder)	Pfeiffer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
83015004 View
83015004	Saethre-chotzen syndrome (disorder)	Saethre-chotzen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205258009 View
205258009	Acrocephalosyndactyly (apert) (disorder)	Apert syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205260006 View
205260006	Acrocephalopolysyndactyly (disorder)	Acrocephalopolysyndactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (7d4fd615-0513-5109-b60b-1454091da68e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0	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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