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Terminology chevron_right Concepts chevron_right 702313004

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Component

702313004

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetra-amelia syndrome (disorder)

Shortest Term

Tetra-amelia syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Tetra-amelia syndrome (disorder)

SCTID: 702313004, Defined, Active

702313004|Tetra-amelia syndrome (disorder)|

en Tetra-amelia syndrome
en Tetra-amelia syndrome (disorder)

Expression

702313004 |Tetra-amelia syndrome (disorder)|
 === 85995004 |Autosomal recessive hereditary disorder (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)| = 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)| = 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)| = 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
2995472015 - Tetra-amelia syndrome (en) View
2995472015	en	Synonym (core metadata concept)	Tetra-amelia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995153014 - Tetra-amelia syndrome (disorder) (en) View
2995153014	en	Fully specified name (core metadata concept)	Tetra-amelia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6028897029) - 702313004 -> 205306000 (116680003) View
116680003 \|Is a (attribute)\|	205306000 \|Congenital complete absence of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9257135023) - 702313004 -> 15973301000119100 (116680003) View
116680003 \|Is a (attribute)\|	15973301000119100 \|Congenital deformity of bilateral lower limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10737312024) - 702313004 -> 16009191000119108 (116680003) View
116680003 \|Is a (attribute)\|	16009191000119108 \|Congenital deformity of bilateral upper limbs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12087919021) - 702313004 -> 15669241000119104 (116680003) View
116680003 \|Is a (attribute)\|	15669241000119104 \|Congenital absence of left lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12087920026) - 702313004 -> 15669321000119104 (116680003) View
116680003 \|Is a (attribute)\|	15669321000119104 \|Congenital absence of right lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13002337022) - 702313004 -> 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 (13002338028) - 702313004 -> 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 (13069698026) - 702313004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028898023) - 702313004 -> 265798000 (116680003) View
116680003 \|Is a (attribute)\|	265798000 \|Amelia of lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5054926025) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028900020) - 702313004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028903022) - 702313004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028906025) - 702313004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028908029) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028909021) - 702313004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6030000025) - 702313004 -> 362729008 (363698007) View
363698007 \|Finding site (attribute)\|	362729008 \|Entire left upper extremity (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6030001026) - 702313004 -> 362784000 (363698007) View
363698007 \|Finding site (attribute)\|	362784000 \|Entire right lower extremity (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6031619028) - 702313004 -> 362784000 (363698007) View
363698007 \|Finding site (attribute)\|	362784000 \|Entire right lower extremity (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6038940021) - 702313004 -> 362729008 (363698007) View
363698007 \|Finding site (attribute)\|	362729008 \|Entire left upper extremity (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6042986028) - 702313004 -> 362728000 (363698007) View
363698007 \|Finding site (attribute)\|	362728000 \|Entire right upper extremity (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6832849020) - 702313004 -> 12236021000119104 (116680003) View
116680003 \|Is a (attribute)\|	12236021000119104 \|Congenital deformity of left upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9257136024) - 702313004 -> 12236061000119109 (116680003) View
116680003 \|Is a (attribute)\|	12236061000119109 \|Congenital deformity of right upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10534379029) - 702313004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534380026) - 702313004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534381027) - 702313004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534382023) - 702313004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10547029025) - 702313004 -> 362728000 (363698007) View
363698007 \|Finding site (attribute)\|	362728000 \|Entire right upper extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151610020) - 702313004 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151611024) - 702313004 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151612028) - 702313004 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151613022) - 702313004 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4967932026) - 702313004 -> 62588002 (116680003) View
116680003 \|Is a (attribute)\|	62588002 \|Amelia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023787021) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023788027) - 702313004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023789024) - 702313004 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028899026) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028902028) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028905026) - 702313004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6031618020) - 702313004 -> 362785004 (363698007) View
363698007 \|Finding site (attribute)\|	362785004 \|Entire left lower extremity (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4967933020) - 702313004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (18af37c5-4d3c-55bd-87fd-08b8dbd24991) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q72.0	TRUE	ALWAYS Q72.0	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)\|
ExtendedMap object (af7d8871-260d-5850-9ca2-721e792834d9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q71.0	TRUE	ALWAYS Q71.0	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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