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Terminology chevron_right Concepts chevron_right 715531000

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Component

715531000

The component that hold information about this concept.

Fully Specified Name (FSN)

Tibial aplasia and ectrodactyly syndrome (disorder)

Shortest Term

Tibial hemimelia ectrodactyly 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

Tibial aplasia and ectrodactyly syndrome (disorder)

SCTID: 715531000, Primitive, Active

715531000|Tibial aplasia and ectrodactyly syndrome (disorder)|

en Aplasia of tibia with split hand split foot deformity
en Split hand foot malformation with long bone deficiency
en Tibial aplasia and ectrodactyly syndrome
en Tibial aplasia and ectrodactyly syndrome (disorder)
en Tibial hemimelia ectrodactyly syndrome

Expression

715531000 |Tibial aplasia and ectrodactyly syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
81208006 |Ectrodactyly (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1145471002 |Aplasia of tibia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12611008 |Bone structure of tibia (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 361367007 |Entire digit (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
3302942019 - Aplasia of tibia with split hand split foot deformity (en) View
3302942019	en	Synonym (core metadata concept)	Aplasia of tibia with split hand split foot deformity	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3302944018 - Split hand foot malformation with long bone deficiency (en) View
3302944018	en	Synonym (core metadata concept)	Split hand foot malformation with long bone deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3302941014 - Tibial aplasia and ectrodactyly syndrome (en) View
3302941014	en	Synonym (core metadata concept)	Tibial aplasia and ectrodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3302940010 - Tibial aplasia and ectrodactyly syndrome (disorder) (en) View
3302940010	en	Fully specified name (core metadata concept)	Tibial aplasia and ectrodactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3302943012 - Tibial hemimelia ectrodactyly syndrome (en) View
3302943012	en	Synonym (core metadata concept)	Tibial hemimelia ectrodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13179922022) - 715531000 -> 79177001 (116680003) View
116680003 \|Is a (attribute)\|	79177001 \|Congenital absence of tibia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16251122028) - 715531000 -> 1145471002 (116680003) View
116680003 \|Is a (attribute)\|	1145471002 \|Aplasia of tibia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547053026) - 715531000 -> 123563003 (116680003) View
116680003 \|Is a (attribute)\|	123563003 \|Congenital anomaly of tibia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11188001029) - 715531000 -> 275346000 (116680003) View
116680003 \|Is a (attribute)\|	275346000 \|Absence of tibia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069585025) - 715531000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547054021) - 715531000 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547056023) - 715531000 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547059027) - 715531000 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547060021) - 715531000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547061020) - 715531000 -> 12611008 (363698007) View
363698007 \|Finding site (attribute)\|	12611008 \|Bone structure of tibia (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10534110026) - 715531000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534111027) - 715531000 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534113029) - 715531000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534114024) - 715531000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534115020) - 715531000 -> 12611008 (363698007) View
363698007 \|Finding site (attribute)\|	12611008 \|Bone structure of tibia (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10601715027) - 715531000 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547051029) - 715531000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547052020) - 715531000 -> 81208006 (116680003) View
116680003 \|Is a (attribute)\|	81208006 \|Ectrodactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547055022) - 715531000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547057025) - 715531000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547058024) - 715531000 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145471002 View
1145471002	Aplasia of tibia (disorder)	Aplasia of tibia	900000000000073002 \|Sufficiently defined by necessary conditions 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81208006 View
81208006	Ectrodactyly (disorder)	Ectrodactyly	900000000000074008 \|Necessary but not sufficient concept 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 (28dcc9d5-74b9-5c66-ace1-585702fb5737) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q73.8	TRUE	ALWAYS Q73.8 \| 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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