dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 19419002

Production

add

Component

19419002

The component that hold information about this concept.

Fully Specified Name (FSN)

8p partial monosomy syndrome (disorder)

Shortest Term

8p partial monosomy syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

8p partial monosomy syndrome (disorder)

SCTID: 19419002, Defined, Active

19419002|8p partial monosomy syndrome (disorder)|

en 8p partial monosomy syndrome
en 8p partial monosomy syndrome (disorder)

Expression

19419002 |8p partial monosomy syndrome (disorder)|
 === 726378007 |Deletion of part of chromosome 8 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 67285006 |Deletion of short arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
32716018 - 8p partial monosomy syndrome (en) View
32716018	en	Synonym (core metadata concept)	8p partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
747520019 - 8p partial monosomy syndrome (disorder) (en) View
747520019	en	Fully specified name (core metadata concept)	8p partial monosomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (178683022) - 19419002 -> 48082007 (116680003) View
116680003 \|Is a (attribute)\|	48082007 \|Anomaly of chromosome pair 8 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (178684027) - 19419002 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970493028) - 19419002 -> 726378007 (116680003) View
116680003 \|Is a (attribute)\|	726378007 \|Deletion of part of chromosome 8 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (719748026) - 19419002 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719749023) - 19419002 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719750023) - 19419002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3301410025) - 19419002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008219023) - 19419002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010774026) - 19419002 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024759021) - 19419002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024761028) - 19419002 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5030645020) - 19419002 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5030646021) - 19419002 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3301411026) - 19419002 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719752026) - 19419002 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2591982027) - 19419002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719751022) - 19419002 -> 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
726378007 View
726378007	Deletion of part of chromosome 8 (disorder)	Deletion of part of chromosome 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003358004 View
1003358004	Distal deletion of short arm of chromosome 8 (disorder)	Distal deletion of short arm of chromosome 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003910002 View
1003910002	Proximal deletion of short arm of chromosome 8 (disorder)	Proximal deletion of short arm of chromosome 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719646006 View
719646006	8p11.2 deletion syndrome (disorder)	Monosomy 8p11.2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716381003 View
716381003	8p23.1 microdeletion syndrome (disorder)	Monosomy 8p23.1	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 (3612994d-6a5f-5e69-bce4-1939683f29de) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5	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)\|

Terminology chevron_right Concepts chevron_right 19419002

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches