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Terminology chevron_right Concepts chevron_right 719664004

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Extended Map with ID “8b084d85-e07f-5039-902c-b9de669c3fb7” doesn’t exist. Perhaps it was deleted?

Component

719664004

The component that hold information about this concept.

Fully Specified Name (FSN)

8q22.1 microdeletion syndrome (disorder)

Shortest Term

Monosomy 8q22.1

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

8q22.1 microdeletion syndrome (disorder)

SCTID: 719664004, Primitive, Active

719664004|8q22.1 microdeletion syndrome (disorder)|

en 8q22.1 microdeletion syndrome
en 8q22.1 microdeletion syndrome (disorder)
en Monosomy 8q22.1
en Nablus mask-like facial syndrome

Expression

719664004 |8q22.1 microdeletion syndrome (disorder)|
 <<< 29379007 |8q partial monosomy syndrome (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body 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
3317298013 - 8q22.1 microdeletion syndrome (en) View
3317298013	en	Synonym (core metadata concept)	8q22.1 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3317297015 - 8q22.1 microdeletion syndrome (disorder) (en) View
3317297015	en	Fully specified name (core metadata concept)	8q22.1 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3317299017 - Monosomy 8q22.1 (en) View
3317299017	en	Synonym (core metadata concept)	Monosomy 8q22.1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3317300013 - Nablus mask-like facial syndrome (en) View
3317300013	en	Synonym (core metadata concept)	Nablus mask-like facial syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6644344023) - 719664004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644348021) - 719664004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644349029) - 719664004 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644351025) - 719664004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644352021) - 719664004 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645741023) - 719664004 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646948026) - 719664004 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519775029) - 719664004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519777021) - 719664004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519778027) - 719664004 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519779024) - 719664004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519780022) - 719664004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519781021) - 719664004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519782025) - 719664004 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538343027) - 719664004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538344022) - 719664004 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545655029) - 719664004 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644342022) - 719664004 -> 29379007 (116680003) View
116680003 \|Is a (attribute)\|	29379007 \|8q partial monosomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644343028) - 719664004 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644345024) - 719664004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644346020) - 719664004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
29379007 View
29379007	8q partial monosomy syndrome (disorder)	8q partial monosomy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	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 (d6fa158e-5fdb-5fa3-b439-eb31425e8a97) 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)\|

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