dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 53346000

Production

add

Component

53346000

The component that hold information about this concept.

Fully Specified Name (FSN)

Complete trisomy 20 syndrome (disorder)

Shortest Term

Complete trisomy 20 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 20 syndrome (disorder)

SCTID: 53346000, Primitive, Active

53346000|Complete trisomy 20 syndrome (disorder)|

en Complete trisomy 20 syndrome
en Complete trisomy 20 syndrome (disorder)

Expression

53346000 |Complete trisomy 20 syndrome (disorder)|
 <<< 9839007 |Anomaly of chromosome pair 20 (disorder)| + 
270521004 |Trisomy and partial trisomy of autosome (disorder)| + 
276654001 |Congenital malformation (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25610001 |Chromosome pair 20 (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
88705015 - Complete trisomy 20 syndrome (en) View
88705015	en	Synonym (core metadata concept)	Complete trisomy 20 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
791455010 - Complete trisomy 20 syndrome (disorder) (en) View
791455010	en	Fully specified name (core metadata concept)	Complete trisomy 20 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (805758026) - 53346000 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011006026) - 53346000 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13763572029) - 53346000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763573023) - 53346000 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763574028) - 53346000 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (805757020) - 53346000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3395900024) - 53346000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990727028) - 53346000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4990729025) - 53346000 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3395901023) - 53346000 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805756027) - 53346000 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597647021) - 53346000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805755028) - 53346000 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805754029) - 53346000 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (234863024) - 53346000 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (234864029) - 53346000 -> 9839007 (116680003) View
116680003 \|Is a (attribute)\|	9839007 \|Anomaly of chromosome pair 20 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
9839007 View
9839007	Anomaly of chromosome pair 20 (disorder)	Anomaly of chromosome pair 20	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (a84f8bfa-7ef3-599c-9580-e48bacbc70ed) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.8	TRUE	ALWAYS Q92.8	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)\|

Terminology chevron_right Concepts chevron_right 53346000

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches