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
10q partial monosomy (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
1q partial monosomy	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
partiellt monosomi 16q-syndrom	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
4q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
18q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
11q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
9q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
partiellt monosomi 15q-syndrom	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
Williams syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	4
7q partial monosomy	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
15q13.3 microdeletion	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
1q21.1 microdeletion	Associated morphology	False	Deletion of long arm	Inferred relationship	Some
21q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
10q partial monosomy (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
1q partial monosomy	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
18q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
partiellt monosomi 15q-syndrom	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
8q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
22q partial monosomy (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
7q partial monosomy	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
partiellt monosomi 16q-syndrom	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
9q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
13q partial monosomy syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
11q partial monosomy syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal partial deletion of long arm of chromosome 11 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
2q31.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
1q41q42 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
3q29 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
8q21.11 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal monosomy 10q syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	5
14q11.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	4
17q-deletionssyndromet	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
17q23.1q23.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
19q13.11 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
2q23.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
2q24 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
2q32q33 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
14q12 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
15q14 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
4q21 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
5q14.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
6q25 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
6q terminal deletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
8q22.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	4
1q21.1 microdeletion	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
1q44 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
16q24.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	5
Deletion 5q35	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Monosomy 9q22.3 syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
8q13 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	4
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	4
3q13 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal monosomy 17q (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 5 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 20 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 3 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Deletion of long arm of chromosome 19 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 6 (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 12 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
20q13.33 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
17q12 microdeletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 17 (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
12q15q21.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
Distal 22q11.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
2q33.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal monosomy 13q syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Proximal chromosome 18q deletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Distal monosomy 7q36 syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
Distal chromosome 18q deletion syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
Monosomy 13q34 syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
22q11.2 deletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
Distal monosomy 14q syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
10q22.3q23.3 microdeletion syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
19q13.11 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
Non-distal monosomy 10q (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
Monosomy 13q14 syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
16q24.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
9q22.3-deletionssyndromet	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
8q13 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
8q22.1 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	1
14q11.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
9q31.1q31.3 microdeletion syndrome	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	3
13q12.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
14q24.1q24.3 microdeletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	3
3q26q27 microdeletion syndrome	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	1
Non-distal monosomy 12q	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
distal monosomi 20q	Associated morphology	False	Deletion of long arm	Inferred relationship	Some	2
Distal monosomy 4q	Associated morphology	True	Deletion of long arm	Inferred relationship	Some	2
21q22.11q22.12 microdeletion syndrome	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)