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Component

205619006

The component that hold information about this concept.

Fully Specified Name (FSN)

Trisomy 13, meiotic nondisjunction (disorder)

Shortest Term

Trisomy 13, meiotic nondisjunction

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 13, meiotic nondisjunction (disorder)

SCTID: 205619006, Primitive, Active

205619006|Trisomy 13, meiotic nondisjunction (disorder)|

en Trisomy 13, meiotic nondisjunction
en Trisomy 13, meiotic nondisjunction (disorder)

Expression

205619006 |Trisomy 13, meiotic nondisjunction (disorder)|
 <<< 254269007 |Whole chromosome trisomy - meiotic nondisjunction (disorder)| + 
21111006 |Complete trisomy 13 syndrome (disorder)| + 
276654001 |Congenital malformation (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 55401003 |Chromosome pair 13 (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
315350012 - Trisomy 13, meiotic nondisjunction (en) View
315350012	en	Synonym (core metadata concept)	Trisomy 13, meiotic nondisjunction	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
591013011 - Trisomy 13, meiotic nondisjunction (disorder) (en) View
591013011	en	Fully specified name (core metadata concept)	Trisomy 13, meiotic nondisjunction (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3531326021) - 205619006 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011380025) - 205619006 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13891159024) - 205619006 -> 254269007 (116680003) View
116680003 \|Is a (attribute)\|	254269007 \|Whole chromosome trisomy - meiotic nondisjunction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891160025) - 205619006 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891161026) - 205619006 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891162022) - 205619006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470283026) - 205619006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3531325020) - 205619006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4992866022) - 205619006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4992868023) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470284021) - 205619006 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569170028) - 205619006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094223020) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094224025) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980213026) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980214021) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915338026) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915339023) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822445022) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822446023) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675543024) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675544029) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470287025) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2527991029) - 205619006 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470286023) - 205619006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470285022) - 205619006 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23846022) - 205619006 -> 21111006 (116680003) View
116680003 \|Is a (attribute)\|	21111006 \|Complete trisomy 13 syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
21111006 View
21111006	Complete trisomy 13 syndrome (disorder)	Patau syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254269007 View
254269007	Whole chromosome trisomy - meiotic nondisjunction (disorder)	Whole chromosome trisomy meiotic nondisjunction	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 (51686de6-3a21-53cd-a195-648520cf7720) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.4	TRUE	ALWAYS Q91.4	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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