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Terminology chevron_right Concepts chevron_right 716249009

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Component

716249009

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetraamelia with multiple malformation syndrome (disorder)

Shortest Term

Zimmer phocomelia

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

Tetraamelia with multiple malformation syndrome (disorder)

SCTID: 716249009, Primitive, Active

716249009|Tetraamelia with multiple malformation syndrome (disorder)|

en Tetra-amelia with multiple malformation syndrome
en Tetraamelia with multiple malformation syndrome
en Tetraamelia with multiple malformation syndrome (disorder)
en Zimmer phocomelia

Expression

716249009 |Tetraamelia with multiple malformation syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
890223001 |Congenital complete absence of bilateral upper limbs (disorder)| + 
890222006 |Congenital complete absence of bilateral lower limbs (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 362729008 |Entire left upper extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 362728000 |Entire right upper extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 362785004 |Entire left lower extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 362784000 |Entire right lower extremity (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
3305241012 - Tetra-amelia with multiple malformation syndrome (en) View
3305241012	en	Synonym (core metadata concept)	Tetra-amelia with multiple malformation syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3305238015 - Tetraamelia with multiple malformation syndrome (en) View
3305238015	en	Synonym (core metadata concept)	Tetraamelia with multiple malformation syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3305237013 - Tetraamelia with multiple malformation syndrome (disorder) (en) View
3305237013	en	Fully specified name (core metadata concept)	Tetraamelia with multiple malformation syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3305239011 - Zimmer phocomelia (en) View
3305239011	en	Synonym (core metadata concept)	Zimmer phocomelia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6595502024) - 716249009 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6595504020) - 716249009 -> 205306000 (116680003) View
116680003 \|Is a (attribute)\|	205306000 \|Congenital complete absence of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11150272021) - 716249009 -> 16009191000119108 (116680003) View
116680003 \|Is a (attribute)\|	16009191000119108 \|Congenital deformity of bilateral upper limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11150274022) - 716249009 -> 15973301000119100 (116680003) View
116680003 \|Is a (attribute)\|	15973301000119100 \|Congenital deformity of bilateral lower limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092586020) - 716249009 -> 15669321000119104 (116680003) View
116680003 \|Is a (attribute)\|	15669321000119104 \|Congenital absence of right lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092587027) - 716249009 -> 15669241000119104 (116680003) View
116680003 \|Is a (attribute)\|	15669241000119104 \|Congenital absence of left lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13002335025) - 716249009 -> 890223001 (116680003) View
116680003 \|Is a (attribute)\|	890223001 \|Congenital complete absence of bilateral upper limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13002336029) - 716249009 -> 890222006 (116680003) View
116680003 \|Is a (attribute)\|	890222006 \|Congenital complete absence of bilateral lower limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069645029) - 716249009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595505021) - 716249009 -> 265798000 (116680003) View
116680003 \|Is a (attribute)\|	265798000 \|Amelia of lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6595506022) - 716249009 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6595508023) - 716249009 -> 182245002 (363698007) View
363698007 \|Finding site (attribute)\|	182245002 \|Entire upper limb (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6595509026) - 716249009 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6595511024) - 716249009 -> 182281004 (363698007) View
363698007 \|Finding site (attribute)\|	182281004 \|Entire lower limb (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532801024) - 716249009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532802028) - 716249009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532804027) - 716249009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150270029) - 716249009 -> 362729008 (363698007) View
363698007 \|Finding site (attribute)\|	362729008 \|Entire left upper extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150275023) - 716249009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150276024) - 716249009 -> 362785004 (363698007) View
363698007 \|Finding site (attribute)\|	362785004 \|Entire left lower extremity (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150277026) - 716249009 -> 362784000 (363698007) View
363698007 \|Finding site (attribute)\|	362784000 \|Entire right lower extremity (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150279028) - 716249009 -> 362728000 (363698007) View
363698007 \|Finding site (attribute)\|	362728000 \|Entire right upper extremity (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150281026) - 716249009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11150283028) - 716249009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151483022) - 716249009 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151484027) - 716249009 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151485026) - 716249009 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151486025) - 716249009 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595503025) - 716249009 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595507029) - 716249009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595510020) - 716249009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	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
890222006 View
890222006	Congenital complete absence of bilateral lower limbs (disorder)	Bilateral amelia of lower limbs	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
890223001 View
890223001	Congenital complete absence of bilateral upper limbs (disorder)	Bilateral amelia of upper limbs	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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 (7337a9b9-2699-5aca-8ffb-755bf7efad5e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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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