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64329008: Deletion of long arm (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Alteration of chromosome structure\Deletion of long arm

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

106929012 Deletion of long arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

803710013 Deletion of long arm (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

901000052114 deletion av den långa armen sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of long arm	Is a	Alteration of chromosome structure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q22.11q22.12 microdeletion syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Choroideremia with deafness and obesity syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	5
Chromosome 2q37 deletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
14q32 deletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
17q11 deletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
5q22.2 deletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
9q34 deletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	4
12q24.31-q24.32 deletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
12q15q21.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 16	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 12 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 2 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 3	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 8 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 9 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 6 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 7	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 1	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 1	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Medial deletion of long arm of chromosome 9 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 9 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Medial deletion of long arm of chromosome 7 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 2	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 4 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 1	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 7 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 5 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 5 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 2	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 4 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Medial duplication of long arm of chromosome 9	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Deletion of long arm of chromosome 18	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Deletion of long arm of chromosome 13	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
6q16 microdeletion syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 8	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 9 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 7 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 5	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 6 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 4 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 3 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 18	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 2	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 17 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 16 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 10 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 1 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 12 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 11 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
106929012	Deletion of long arm	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
803710013	Deletion of long arm (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
901000052114	deletion av den långa armen	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)