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Terminology chevron_right Concepts chevron_right 732250002

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Component

732250002

The component that hold information about this concept.

Fully Specified Name (FSN)

Craniosynostosis fibular aplasia syndrome (disorder)

Shortest Term

Lowry 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

Craniosynostosis fibular aplasia syndrome (disorder)

SCTID: 732250002, Primitive, Active

732250002|Craniosynostosis fibular aplasia syndrome (disorder)|

en Craniosynostosis fibular aplasia syndrome
en Craniosynostosis fibular aplasia syndrome (disorder)
en Lowry syndrome

Expression

732250002 |Craniosynostosis fibular aplasia syndrome (disorder)|
 <<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
237513002 |Congenital anomaly of bone and joint (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1003546000 |Agenesis of fibula (disorder)| + 
1003586008 |Congenital synostosis of coronal suture of skull (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 29012004 |Structure of coronal suture of skull (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 302529003 |Entire fibula (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
3464761017 - Craniosynostosis fibular aplasia syndrome (en) View
3464761017	en	Synonym (core metadata concept)	Craniosynostosis fibular aplasia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3464760016 - Craniosynostosis fibular aplasia syndrome (disorder) (en) View
3464760016	en	Fully specified name (core metadata concept)	Craniosynostosis fibular aplasia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3464762012 - Lowry syndrome (en) View
3464762012	en	Synonym (core metadata concept)	Lowry syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6964057027) - 732250002 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13917395023) - 732250002 -> 298364001 (116680003) View
116680003 \|Is a (attribute)\|	298364001 \|Finding of head region (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16293418025) - 732250002 -> 1003586008 (116680003) View
116680003 \|Is a (attribute)\|	1003586008 \|Congenital synostosis of coronal suture of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519794023) - 732250002 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839144027) - 732250002 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964056020) - 732250002 -> 51655004 (116680003) View
116680003 \|Is a (attribute)\|	51655004 \|Congenital anomaly of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6964058021) - 732250002 -> 74245009 (116680003) View
116680003 \|Is a (attribute)\|	74245009 \|Congenital absence of fibula (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069524029) - 732250002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13180524028) - 732250002 -> 1003546000 (116680003) View
116680003 \|Is a (attribute)\|	1003546000 \|Agenesis of fibula (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964061022) - 732250002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6964067021) - 732250002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6966966028) - 732250002 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6966967021) - 732250002 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6966968027) - 732250002 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6966969024) - 732250002 -> 87342007 (363698007) View
363698007 \|Finding site (attribute)\|	87342007 \|Bone structure of fibula (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519790025) - 732250002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519791026) - 732250002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519792022) - 732250002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519793028) - 732250002 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151578028) - 732250002 -> 302529003 (363698007) View
363698007 \|Finding site (attribute)\|	302529003 \|Entire fibula (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151579020) - 732250002 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964055024) - 732250002 -> 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 (6964059029) - 732250002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964060023) - 732250002 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964062026) - 732250002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6964064025) - 732250002 -> 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
1003586008 View
1003586008	Congenital synostosis of coronal suture of skull (disorder)	Congenital coronal craniosynostosis	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
1003546000 View
1003546000	Agenesis of fibula (disorder)	Agenesis of fibula	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237513002 View
237513002	Congenital anomaly of bone and joint (disorder)	Congenital anomaly of bone and joint	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
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 (9472555b-d202-50c9-b475-a1141b7ed3cc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q72.6	TRUE	ALWAYS Q72.6	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 (b6e5d02e-bb12-5cb6-a6fc-8b96eb87c471) 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)\|
ExtendedMap object (cae69279-f28e-549d-9453-8421985dfbc7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.0	TRUE	ALWAYS Q75.0 \| 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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