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Terminology chevron_right Concepts chevron_right 770681000

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Component

770681000

The component that hold information about this concept.

Fully Specified Name (FSN)

Robin sequence and oligodactyly syndrome (disorder)

Shortest Term

Robin sequence and oligodactyly 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

Robin sequence and oligodactyly syndrome (disorder)

SCTID: 770681000, Primitive, Active

770681000|Robin sequence and oligodactyly syndrome (disorder)|

en Pierre robin sequence, oligodactyly syndrome
en Robin sequence and oligodactyly syndrome
en Robin sequence and oligodactyly syndrome (disorder)

Expression

770681000 |Robin sequence and oligodactyly syndrome (disorder)|
 <<< 275348004 |Adactyly (disorder)| + 
4602007 |Robin sequence (disorder)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3702095014 - Pierre Robin sequence, oligodactyly syndrome (en) View
3702095014	en	Synonym (core metadata concept)	Pierre Robin sequence, oligodactyly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3702093019 - Robin sequence and oligodactyly syndrome (en) View
3702093019	en	Synonym (core metadata concept)	Robin sequence and oligodactyly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3702094013 - Robin sequence and oligodactyly syndrome (disorder) (en) View
3702094013	en	Fully specified name (core metadata concept)	Robin sequence and oligodactyly syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9619344026) - 770681000 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13182729025) - 770681000 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619338025) - 770681000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619339022) - 770681000 -> 4602007 (116680003) View
116680003 \|Is a (attribute)\|	4602007 \|Robin sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619340024) - 770681000 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619341023) - 770681000 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619342027) - 770681000 -> 275348004 (116680003) View
116680003 \|Is a (attribute)\|	275348004 \|Adactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619343021) - 770681000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619345025) - 770681000 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524580023) - 770681000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524581022) - 770681000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524582026) - 770681000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
275348004 View
275348004	Adactyly (disorder)	Adactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
4602007 View
4602007	Robin sequence (disorder)	Robin sequence	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (e96ce20e-9d1d-5b73-a4d4-293cafa0082b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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