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Terminology chevron_right Concepts chevron_right 4602007

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Component

4602007

The component that hold information about this concept.

Fully Specified Name (FSN)

Robin sequence (disorder)

Shortest Term

Robin sequence

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 (disorder)

SCTID: 4602007, Primitive, Active

4602007|Robin sequence (disorder)|

en Micrognathia-glossoptosis syndrome
en Pierre robin association
en Robin sequence (disorder)
en Pierre robin syndrome
en Robin sequence

Expression

4602007 |Robin sequence (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
7921011 - Micrognathia-glossoptosis syndrome (en) View
7921011	en	Synonym (core metadata concept)	Micrognathia-glossoptosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1230294017 - Pierre Robin association (en) View
1230294017	en	Synonym (core metadata concept)	Pierre Robin association	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
783324010 - Robin sequence (disorder) (en) View
783324010	en	Fully specified name (core metadata concept)	Robin sequence (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
7922016 - Pierre Robin syndrome (en) View
7922016	en	Synonym (core metadata concept)	Pierre Robin syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
7920012 - Robin sequence (en) View
7920012	en	Synonym (core metadata concept)	Robin sequence	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5020709020) - 4602007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520171023) - 4602007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520172027) - 4602007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (787087024) - 4602007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267254024) - 4602007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997527029) - 4602007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020710026) - 4602007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (222996029) - 4602007 -> 312572002 (116680003) View
116680003 \|Is a (attribute)\|	312572002 \|Multisystem disorder o-p (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (222997022) - 4602007 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial 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
1216940001 View
1216940001	Joint contractures, developmental delay, pierre robin syndrome (disorder)	5q23 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770681000 View
770681000	Robin sequence and oligodactyly syndrome (disorder)	Robin sequence and oligodactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763744009 View
763744009	Intellectual disability, brachydactyly, pierre robin syndrome (disorder)	Intellectual disability, brachydactyly, pierre robin syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723461007 View
723461007	Pierre robin sequence faciodigital anomaly syndrome (disorder)	Chitayat meunier hodgkinson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723998001 View
723998001	Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Richieri costa pereira syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719823007 View
719823007	Ventricular extrasystoles with syncope, perodactyly and robin sequence syndrome (disorder)	Stoll kieny dott syndrome	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 (9e944bee-1a89-51c6-8d5c-ea521f7b2ca1) 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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