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Terminology chevron_right Concepts chevron_right 723998001

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Component

723998001

The component that hold information about this concept.

Fully Specified Name (FSN)

Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

Shortest Term

Richieri costa pereira 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

Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

SCTID: 723998001, Primitive, Active

723998001|Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)|

en Richieri costa pereira syndrome
en Robin sequence with cleft mandible and limb anomalies syndrome
en Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
en Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

Expression

723998001 |Short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)|
 <<< 4602007 |Robin sequence (disorder)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
92822004 |Cleft mandible (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 91609006 |Bone structure of mandible (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 66019005 |Limb 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
3498177012 - Richieri Costa Pereira syndrome (en) View
3498177012	en	Synonym (core metadata concept)	Richieri Costa Pereira syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498174017 - Robin sequence with cleft mandible and limb anomalies syndrome (en) View
3498174017	en	Synonym (core metadata concept)	Robin sequence with cleft mandible and limb anomalies syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498176015 - Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (en) View
3498176015	en	Synonym (core metadata concept)	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3498175016 - Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) (en) View
3498175016	en	Fully specified name (core metadata concept)	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6870425025) - 723998001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730352026) - 723998001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730353020) - 723998001 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730354025) - 723998001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069452024) - 723998001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870419029) - 723998001 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6870423021) - 723998001 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874138020) - 723998001 -> 91609006 (363698007) View
363698007 \|Finding site (attribute)\|	91609006 \|Bone structure of mandible (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874139028) - 723998001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874140026) - 723998001 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6951467026) - 723998001 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531429027) - 723998001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531431020) - 723998001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531432029) - 723998001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539701026) - 723998001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539702022) - 723998001 -> 91609006 (363698007) View
363698007 \|Finding site (attribute)\|	91609006 \|Bone structure of mandible (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539703028) - 723998001 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870415024) - 723998001 -> 4602007 (116680003) View
116680003 \|Is a (attribute)\|	4602007 \|Robin sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870416020) - 723998001 -> 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 (6870417027) - 723998001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870418021) - 723998001 -> 92822004 (116680003) View
116680003 \|Is a (attribute)\|	92822004 \|Cleft mandible (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870420024) - 723998001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6870422027) - 723998001 -> 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
92822004 View
92822004	Cleft mandible (disorder)	Cleft mandible	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 (75670475-0d1d-5a04-86c2-fd669ee83dfa) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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