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Terminology chevron_right Concepts chevron_right 254269007

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Language with ID “eb5df586-845e-42da-ae2e-c00d0fa28f79” doesn’t exist. Perhaps it was deleted?

Component

254269007

The component that hold information about this concept.

Fully Specified Name (FSN)

Whole chromosome trisomy - meiotic nondisjunction (disorder)

Shortest Term

Whole chromosome trisomy 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

Whole chromosome trisomy - meiotic nondisjunction (disorder)

SCTID: 254269007, Primitive, Active

254269007|Whole chromosome trisomy - meiotic nondisjunction (disorder)|

en Whole chromosome trisomy meiotic nondisjunction
en Whole chromosome trisomy meiotic nondisjunction (disorder)

Expression

254269007 |Whole chromosome trisomy - meiotic nondisjunction (disorder)|
 <<< 270521004 |Trisomy and partial trisomy of autosome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312237004 |Chromosome structure (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378502011 - Whole chromosome trisomy - meiotic nondisjunction (en) View
378502011	en	Synonym (core metadata concept)	Whole chromosome trisomy - meiotic nondisjunction	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3661470014 - Whole chromosome trisomy meiotic nondisjunction (en) View
3661470014	en	Synonym (core metadata concept)	Whole chromosome trisomy meiotic nondisjunction	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
645137017 - Whole chromosome trisomy - meiotic nondisjunction (disorder) (en) View
645137017	en	Fully specified name (core metadata concept)	Whole chromosome trisomy - meiotic nondisjunction (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3661467010 - Whole chromosome trisomy meiotic nondisjunction (disorder) (en) View
3661467010	en	Fully specified name (core metadata concept)	Whole chromosome trisomy 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 (580283027) - 254269007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3371412026) - 254269007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009081029) - 254269007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5009082020) - 254269007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5009083026) - 254269007 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3371413020) - 254269007 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2579182022) - 254269007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2579183028) - 254269007 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (580284022) - 254269007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74406025) - 254269007 -> 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
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
205615000 View
205615000	Trisomy 21- meiotic nondisjunction (disorder)	Trisomy 21- meiotic nondisjunction	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205619006 View
205619006	Trisomy 13, meiotic nondisjunction (disorder)	Trisomy 13, meiotic nondisjunction	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205623003 View
205623003	Trisomy 18 - meiotic nondisjunction (disorder)	Trisomy 18 - meiotic nondisjunction	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 (879f6ef2-d618-50ae-9776-032266178261) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.0	TRUE	ALWAYS Q92.0	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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