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Terminology chevron_right Concepts chevron_right 17122004

Production

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Component

17122004

The component that hold information about this concept.

Fully Specified Name (FSN)

4p partial monosomy syndrome (disorder)

Shortest Term

4p minus 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

4p partial monosomy syndrome (disorder)

SCTID: 17122004, Primitive, Active

17122004|4p partial monosomy syndrome (disorder)|

en 4p minus syndrome
en 4p partial monosomy syndrome
en 4p partial monosomy syndrome (disorder)
en Chromosome 4 short arm deletion syndrome
en Deletion of short arm of chromosome 4
en Midline fusion defect syndrome

Expression

17122004 |4p partial monosomy syndrome (disorder)|
 <<< 726371001 |Deletion of part of chromosome 4 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78901007 |Chromosome pair 4 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 67285006 |Deletion of short arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78901007 |Chromosome pair 4 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
28960012 - 4p minus syndrome (en) View
28960012	en	Synonym (core metadata concept)	4p minus syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
28958010 - 4p partial monosomy syndrome (en) View
28958010	en	Synonym (core metadata concept)	4p partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
744279014 - 4p partial monosomy syndrome (disorder) (en) View
744279014	en	Fully specified name (core metadata concept)	4p partial monosomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
28959019 - Chromosome 4 short arm deletion syndrome (en) View
28959019	en	Synonym (core metadata concept)	Chromosome 4 short arm deletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1221474011 - Deletion of short arm of chromosome 4 (en) View
1221474011	en	Synonym (core metadata concept)	Deletion of short arm of chromosome 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
28961011 - Midline fusion defect syndrome (en) View
28961011	en	Synonym (core metadata concept)	Midline fusion defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2840895019 - WHS - Wolf-Hirschhorn syndrome (en) View
2840895019	en	Synonym (core metadata concept)	WHS - Wolf-Hirschhorn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
2842343010 - Wolf-Hirschhorn syndrome (en) View
2842343010	en	Synonym (core metadata concept)	Wolf-Hirschhorn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1221475012 - WHS - Wolff-Hirschorn syndrome (en) View
1221475012	en	Synonym (core metadata concept)	WHS - Wolff-Hirschorn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
28962016 - Wolff-Hirschhorn syndrome (en) View
28962016	en	Synonym (core metadata concept)	Wolff-Hirschhorn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1221473017 - Wolff-Hirschorn syndrome (en) View
1221473017	en	Synonym (core metadata concept)	Wolff-Hirschorn syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (174008021) - 17122004 -> 84711007 (116680003) View
116680003 \|Is a (attribute)\|	84711007 \|Anomaly of chromosome pair 4 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5024799024) - 17122004 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970492022) - 17122004 -> 726371001 (116680003) View
116680003 \|Is a (attribute)\|	726371001 \|Deletion of part of chromosome 4 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (712524023) - 17122004 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (712526020) - 17122004 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (712527027) - 17122004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3400797023) - 17122004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008291022) - 17122004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010864022) - 17122004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024800023) - 17122004 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024801022) - 17122004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024802026) - 17122004 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024803020) - 17122004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (174007027) - 17122004 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3400796025) - 17122004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (712525024) - 17122004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2591546026) - 17122004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (712523028) - 17122004 -> 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
726371001 View
726371001	Deletion of part of chromosome 4 (disorder)	Deletion of part of chromosome 4	900000000000073002 \|Sufficiently defined by necessary conditions 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 (5d18f524-6771-5ba7-835b-1d9e67ca9424) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.3	TRUE	ALWAYS Q93.3	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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