67285006: deletie van korte arm van chromosoom (afwijkende morfologie)

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 short arm

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
8p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
7p partial monosomy (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
syndroom van partiële monosomie 12p	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
1p partial monosomy	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
11p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
18p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
10p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
9p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
5p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
9p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
10p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some
Potocki-Shaffer syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
10p partial monosomy syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
syndroom van partiële monosomie 12p	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
1p partial monosomy	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
3p partial monosomy syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
4p partial monosomy syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
9p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
7p partial monosomy (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
5p partial monosomy syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
8p partial monosomy syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
9q22.3-microdeletiesyndroom	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
8p23.1 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Proximal 16p11.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Distal monosomy 6p (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
19p13.12 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
1p21.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
6p22 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
20p12.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
2p15p16.1 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
2p21 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
16p11.2p12.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
16p13.11 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
8p11.2 deletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Distal monosomy 10p (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	3
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	8
Chromosome Xp22.3 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 6 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 16 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Deletion of short arm of chromosome 19 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 17 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 20 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Distal 16p11.2 microdeletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	6
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Distal monosomy 3p syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
19p13.13 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
9p13 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
Distal monosomy 9p syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
Distal 17p13.3 microdeletion syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
1p31p32 microdeletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
16p12.2 microdeletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
Distal monosomy 19p13.3 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
19p13.12 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
Distal 17p13.1 microdeletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
Monosomy 9p	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	1
20p13 microdeletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	1
Distal monosomy 7p syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
11p15 deletion syndrome	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
3p25.3 deletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
7p12-p14 deletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
7p21.1 deletion syndrome	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
9p24.3 deletion syndrome (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
7p partial monosomy (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Distal deletion of short arm of chromosome 1 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Distal deletion of short arm of chromosome 3 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Distal deletion of short arm of chromosome 8 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Medial deletion of short arm of chromosome 1	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Medial deletion of short arm of chromosome 1	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Deletion of short arm of chromosome 18	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 8 (disorder)	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 6	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 1	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	3
Proximal deletion of short arm of chromosome 3	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	3
Proximal deletion of short arm of chromosome 9	Associated morphology	True	Deletion of short arm	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 7 (disorder)	Associated morphology	False	Deletion of short arm	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
111800015	Deletion of short arm	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
806992019	Deletion of short arm (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
889751000146113	deletie van korte arm van chromosoom (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
889761000146111	deletie van korte arm van chromosoom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)