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Terminology chevron_right Concepts chevron_right 205616004

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Component

205616004

The component that hold information about this concept.

Fully Specified Name (FSN)

Trisomy 21- mitotic nondisjunction mosaicism (disorder)

Shortest Term

Mosaic down 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

Trisomy 21- mitotic nondisjunction mosaicism (disorder)

SCTID: 205616004, Primitive, Active

205616004|Trisomy 21- mitotic nondisjunction mosaicism (disorder)|

en Trisomy 21- mitotic nondisjunction mosaicism
en Trisomy 21- mitotic nondisjunction mosaicism (disorder)
en Mosaic down's syndrome
en Mosaic down syndrome

Expression

205616004 |Trisomy 21- mitotic nondisjunction mosaicism (disorder)|
 <<< 41040004 |Complete trisomy 21 syndrome (disorder)| + 
254270008 |Whole chromosome trisomy - mitotic nondisjunction mosaicism (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11704001 |Chromosome mosaicism (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (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
315347014 - Trisomy 21- mitotic nondisjunction mosaicism (en) View
315347014	en	Synonym (core metadata concept)	Trisomy 21- mitotic nondisjunction mosaicism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
591010014 - Trisomy 21- mitotic nondisjunction mosaicism (disorder) (en) View
591010014	en	Fully specified name (core metadata concept)	Trisomy 21- mitotic nondisjunction mosaicism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2882582014 - Mosaic Down's syndrome (en) View
2882582014	en	Synonym (core metadata concept)	Mosaic Down's syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2882581019 - Mosaic Down syndrome (en) View
2882581019	en	Synonym (core metadata concept)	Mosaic Down syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (23845021) - 205616004 -> 41040004 (116680003) View
116680003 \|Is a (attribute)\|	41040004 \|Complete trisomy 21 syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2912286026) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3796674028) - 205616004 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3796675027) - 205616004 -> 70156005 (116680003) View
116680003 \|Is a (attribute)\|	70156005 \|Anomaly of chromosome pair 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011289026) - 205616004 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753943022) - 205616004 -> 11704001 (116676008) View
116676008 \|Associated morphology (attribute)\|	11704001 \|Chromosome mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753944027) - 205616004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753945026) - 205616004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753987029) - 205616004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753988023) - 205616004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763571020) - 205616004 -> 254270008 (116680003) View
116680003 \|Is a (attribute)\|	254270008 \|Whole chromosome trisomy - mitotic nondisjunction mosaicism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470282020) - 205616004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3551716024) - 205616004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008770026) - 205616004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011290024) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3536645021) - 205616004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470280028) - 205616004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569169029) - 205616004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092227022) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092228028) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977224023) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977225024) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912285027) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819355020) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819356021) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672191024) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672192028) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470281029) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2513478022) - 205616004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470278023) - 205616004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470279026) - 205616004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
41040004 View
41040004	Complete trisomy 21 syndrome (disorder)	Mongolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254270008 View
254270008	Whole chromosome trisomy - mitotic nondisjunction mosaicism (disorder)	Whole chromosome trisomy - mitotic nondisjunction mosaicism	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 (11282e37-ea05-5f9f-babe-30532ddc098d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.1	TRUE	ALWAYS Q90.1	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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