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Terminology chevron_right Concepts chevron_right 723556008

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Component

723556008

The component that hold information about this concept.

Fully Specified Name (FSN)

Thoracolaryngopelvic dysplasia syndrome (disorder)

Shortest Term

Barnes 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

Thoracolaryngopelvic dysplasia syndrome (disorder)

SCTID: 723556008, Primitive, Active

723556008|Thoracolaryngopelvic dysplasia syndrome (disorder)|

en Barnes syndrome
en Thoracolaryngopelvic dysplasia
en Thoracolaryngopelvic dysplasia syndrome
en Thoracolaryngopelvic dysplasia syndrome (disorder)

Expression

723556008 |Thoracolaryngopelvic dysplasia syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
93017005 |Congenital anomaly of pelvic bones (disorder)| + 
254050009 |Short rib dysplasia (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 118645006 |Bone structure of pelvis (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)| = 113197003 |Bone structure of rib (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
3425100015 - Barnes syndrome (en) View
3425100015	en	Synonym (core metadata concept)	Barnes syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3425099011 - Thoracolaryngopelvic dysplasia (en) View
3425099011	en	Synonym (core metadata concept)	Thoracolaryngopelvic dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3425103018 - Thoracolaryngopelvic dysplasia syndrome (en) View
3425103018	en	Synonym (core metadata concept)	Thoracolaryngopelvic dysplasia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3425102011 - Thoracolaryngopelvic dysplasia syndrome (disorder) (en) View
3425102011	en	Fully specified name (core metadata concept)	Thoracolaryngopelvic dysplasia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069438022) - 723556008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545564029) - 723556008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225476024) - 723556008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829089023) - 723556008 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829091026) - 723556008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829092022) - 723556008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829093028) - 723556008 -> 113197003 (363698007) View
363698007 \|Finding site (attribute)\|	113197003 \|Bone structure of rib (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829094023) - 723556008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829095024) - 723556008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829096020) - 723556008 -> 118645006 (363698007) View
363698007 \|Finding site (attribute)\|	118645006 \|Bone structure of pelvis (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10518926027) - 723556008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518928026) - 723556008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518930029) - 723556008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518931025) - 723556008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545565028) - 723556008 -> 113197003 (363698007) View
363698007 \|Finding site (attribute)\|	113197003 \|Bone structure of rib (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545566027) - 723556008 -> 118645006 (363698007) View
363698007 \|Finding site (attribute)\|	118645006 \|Bone structure of pelvis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545567020) - 723556008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829086027) - 723556008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829087020) - 723556008 -> 93017005 (116680003) View
116680003 \|Is a (attribute)\|	93017005 \|Congenital anomaly of pelvic bones (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829088026) - 723556008 -> 254050009 (116680003) View
116680003 \|Is a (attribute)\|	254050009 \|Short rib dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829090025) - 723556008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
254050009 View
254050009	Short rib dysplasia (disorder)	Short rib syndrome	900000000000074008 \|Necessary but not sufficient concept 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
93017005 View
93017005	Congenital anomaly of pelvic bones (disorder)	Congenital anomaly of pelvic bones	900000000000073002 \|Sufficiently defined by necessary conditions 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 (38662a85-8bbc-5c8e-9ef4-59daeae92120) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.2	TRUE	ALWAYS Q77.2 \| 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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