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Terminology chevron_right Concepts chevron_right 723461007

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Component

723461007

The component that hold information about this concept.

Fully Specified Name (FSN)

Pierre robin sequence faciodigital anomaly syndrome (disorder)

Shortest Term

Chitayat meunier hodgkinson 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

Pierre robin sequence faciodigital anomaly syndrome (disorder)

SCTID: 723461007, Primitive, Active

723461007|Pierre robin sequence faciodigital anomaly syndrome (disorder)|

en Chitayat meunier hodgkinson syndrome
en Pierre robin sequence faciodigital anomaly syndrome
en Pierre robin sequence faciodigital anomaly syndrome (disorder)
en Pierre robin sequence with facial and digital anomalies

Expression

723461007 |Pierre robin sequence faciodigital anomaly syndrome (disorder)|
 <<< 4602007 |Robin sequence (disorder)| + 
403855001 |Congenital anomaly of digit (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162976004 |X-linked recessive hereditary disease (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)| = 49755003 |Morphologically abnormal structure (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
3424709018 - Chitayat Meunier Hodgkinson syndrome (en) View
3424709018	en	Synonym (core metadata concept)	Chitayat Meunier Hodgkinson syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3424708014 - Pierre Robin sequence faciodigital anomaly syndrome (en) View
3424708014	en	Synonym (core metadata concept)	Pierre Robin sequence faciodigital anomaly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3424707016 - Pierre Robin sequence faciodigital anomaly syndrome (disorder) (en) View
3424707016	en	Fully specified name (core metadata concept)	Pierre Robin sequence faciodigital anomaly syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3424710011 - Pierre Robin sequence with facial and digital anomalies (en) View
3424710011	en	Synonym (core metadata concept)	Pierre Robin sequence with facial and digital anomalies	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6818238021) - 723461007 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13908887023) - 723461007 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069431027) - 723461007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818240027) - 723461007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818243025) - 723461007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818244020) - 723461007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818245021) - 723461007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520779028) - 723461007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520780025) - 723461007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520781026) - 723461007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520782022) - 723461007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520783028) - 723461007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520784023) - 723461007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818237027) - 723461007 -> 4602007 (116680003) View
116680003 \|Is a (attribute)\|	4602007 \|Robin sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818239029) - 723461007 -> 403855001 (116680003) View
116680003 \|Is a (attribute)\|	403855001 \|Congenital anomaly of digit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818241028) - 723461007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818242024) - 723461007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	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
403855001 View
403855001	Congenital anomaly of digit (disorder)	Perodactylia	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

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 (4ede67e5-939f-5716-ae2e-8aeb7921b04f) 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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