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Terminology chevron_right Concepts chevron_right 51500006

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Component

51500006

The component that hold information about this concept.

Fully Specified Name (FSN)

Complete trisomy 18 syndrome (disorder)

Shortest Term

Edwards 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

Complete trisomy 18 syndrome (disorder)

SCTID: 51500006, Primitive, Active

51500006|Complete trisomy 18 syndrome (disorder)|

en Complete trisomy 18 syndrome
en Complete trisomy 18 syndrome (disorder)
en Edwards syndrome

Expression

51500006 |Complete trisomy 18 syndrome (disorder)|
 <<< 270521004 |Trisomy and partial trisomy of autosome (disorder)| + 
276654001 |Congenital malformation (disorder)| + 
59033006 |Anomaly of chromosome pair 18 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 11698001 |Chromosome pair 18 (cell 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
85775018 - Complete trisomy 18 syndrome (en) View
85775018	en	Synonym (core metadata concept)	Complete trisomy 18 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
789405015 - Complete trisomy 18 syndrome (disorder) (en) View
789405015	en	Fully specified name (core metadata concept)	Complete trisomy 18 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
85776017 - Edwards syndrome (en) View
85776017	en	Synonym (core metadata concept)	Edwards syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (800366024) - 51500006 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3536348027) - 51500006 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010500022) - 51500006 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13882206025) - 51500006 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882207023) - 51500006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (800368020) - 51500006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3536349024) - 51500006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007940025) - 51500006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010501021) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2597334023) - 51500006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092162020) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092163026) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977136022) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977137029) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912195025) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912196029) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819265028) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819266027) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672091021) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672092025) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (800367026) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2513085028) - 51500006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (800365023) - 51500006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (800364022) - 51500006 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (231829023) - 51500006 -> 59033006 (116680003) View
116680003 \|Is a (attribute)\|	59033006 \|Anomaly of chromosome pair 18 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (231830029) - 51500006 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
59033006 View
59033006	Anomaly of chromosome pair 18 (disorder)	Anomaly of chromosome pair 18	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
270521004 View
270521004	Trisomy and partial trisomy of autosome (disorder)	Trisomy and partial trisomy of autosome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205623003 View
205623003	Trisomy 18 - meiotic nondisjunction (disorder)	Trisomy 18 - meiotic nondisjunction	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205624009 View
205624009	Trisomy 18 - mitotic nondisjunction mosaicism (disorder)	Trisomy 18 - mitotic nondisjunction mosaicism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (08b36558-c5b5-5ea3-8c32-4f7a765895e5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.1	IFA 205624009 \| Trisomy 18 - mitotic nondisjunction mosaicism (disorder) \|	IF TRISOMY 18 - MITOTIC NONDISJUNCTION MOSAICISM CHOOSE Q91.1 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (38c85e34-e4df-59ce-8798-1ffe21a116d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.3	OTHERWISE TRUE	ALWAYS Q91.3	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 (9d5accd5-d0fe-513a-9f32-549bf0c372a9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.3	TRUE	ALWAYS Q91.3	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 (b4c260a5-2ed4-54db-8a68-00f0bac12730) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.0	IFA 205623003 \| Trisomy 18 - meiotic nondisjunction (disorder) \|	IF TRISOMY 18 - MEIOTIC NONDISJUNCTION CHOOSE Q91.0 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

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