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Terminology chevron_right Concepts chevron_right 41040004

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Component

41040004

The component that hold information about this concept.

Fully Specified Name (FSN)

Complete trisomy 21 syndrome (disorder)

Shortest Term

Mongolism

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 21 syndrome (disorder)

SCTID: 41040004, Primitive, Active

41040004|Complete trisomy 21 syndrome (disorder)|

vi Hội chứng trisomy 21 hoàn toàn
en Complete trisomy 21 syndrome
en Complete trisomy 21 syndrome (disorder)
en Downs syndrome
en T21 - trisomy 21
en Down syndrome

Expression

41040004 |Complete trisomy 21 syndrome (disorder)|
 <<< 70156005 |Anomaly of chromosome pair 21 (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)| = 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
512861000003112 - hội chứng trisomy 21 hoàn toàn (vi) View
512861000003112	vi	Synonym (core metadata concept)	hội chứng trisomy 21 hoàn toàn	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
68470016 - Complete trisomy 21 syndrome (en) View
68470016	en	Synonym (core metadata concept)	Complete trisomy 21 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
777783010 - Complete trisomy 21 syndrome (disorder) (en) View
777783010	en	Fully specified name (core metadata concept)	Complete trisomy 21 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2921053011 - Downs syndrome (en) View
2921053011	en	Synonym (core metadata concept)	Downs syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
68472012 - Mongolism (en) View
68472012	en	Synonym (core metadata concept)	Mongolism	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1229711010 - T21 - Trisomy 21 (en) View
1229711010	en	Synonym (core metadata concept)	T21 - Trisomy 21	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
68471017 - Down syndrome (en) View
68471017	en	Synonym (core metadata concept)	Down syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (774561028) - 41040004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3529381022) - 41040004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010302026) - 41040004 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13763550026) - 41040004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763551027) - 41040004 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (774559021) - 41040004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3550452028) - 41040004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007636021) - 41040004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010303020) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2595682023) - 41040004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094177027) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094178021) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980150024) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980151023) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915276023) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915277025) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822383022) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822384027) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675475020) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675476021) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (774563025) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2527609021) - 41040004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (774562024) - 41040004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (774560027) - 41040004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (214950024) - 41040004 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (214951023) - 41040004 -> 70156005 (116680003) View
116680003 \|Is a (attribute)\|	70156005 \|Anomaly of chromosome pair 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
70156005 View
70156005	Anomaly of chromosome pair 21 (disorder)	Anomaly of chromosome pair 21	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
840505007 View
840505007	Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder)	Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724643004 View
724643004	Transient abnormal myelopoiesis co-occurrent with down syndrome (disorder)	Transient abnormal myelopoiesis and down syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
724644005 View
724644005	Myeloid leukemia associated with down syndrome (disorder)	Myeloid leukemia and down syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
733194007 View
733194007	Dementia co-occurrent and due to down syndrome (disorder)	Dementia with down syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
371045000 View
371045000	Translocation down syndrome (disorder)	Translocation down syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205615000 View
205615000	Trisomy 21- meiotic nondisjunction (disorder)	Trisomy 21- meiotic nondisjunction	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205616004 View
205616004	Trisomy 21- mitotic nondisjunction mosaicism (disorder)	Mosaic down syndrome	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 (00de8417-12d0-5419-985e-844c956831ce) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.9	TRUE	ALWAYS Q90.9	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 (9d83dcdc-31a5-5aeb-b3c1-7bdc1811a6c5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.9	OTHERWISE TRUE	ALWAYS Q90.9	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 (bfbd32f9-8224-5ff6-a2db-bfc77789bbbe) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.0	IFA 205615000 \| Trisomy 21- meiotic nondisjunction (disorder) \|	IF TRISOMY 21- MEIOTIC NONDISJUNCTION CHOOSE Q90.0 \| 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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