254274004: Deletion of part of autosome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378508010 Deletion of part of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645144014 Deletion of part of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2478781000052110 deletion av del av autosom 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 part of autosome	Is a	Monosomy and deletion from autosome (disorder)	true	Inferred relationship	Some
Deletion of part of autosome	Occurrence	Congenital	false	Inferred relationship	Some
Deletion of part of autosome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Deletion of part of autosome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Deletion of part of autosome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Deletion of part of autosome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Deletion of part of autosome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Deletion of part of autosome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of autosome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Deletion of part of autosome	Finding site	Chromosome	true	Inferred relationship	Some	1
Deletion of part of autosome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
10q partial monosomy (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
4p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
8p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
22q partial monosomy (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
7p partial monosomy (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
8q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
1q partial monosomy	Is a	False	Deletion of part of autosome	Inferred relationship	Some
partiellt monosomi 12p-syndrom	Is a	False	Deletion of part of autosome	Inferred relationship	Some
1p partial monosomy	Is a	False	Deletion of part of autosome	Inferred relationship	Some
partiellt monosomi 16q-syndrom	Is a	False	Deletion of part of autosome	Inferred relationship	Some
4q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
11q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
9q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
10p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
partiellt monosomi 15q-syndrom	Is a	False	Deletion of part of autosome	Inferred relationship	Some
5p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
7q partial monosomy	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Deletion of long arm of chromosome 13	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Deletion of long arm of chromosome 18	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Deletion of short arm of chromosome 18	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Other deletions of part of a chromosome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Other deletion of part of a chromosome NOS	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Other deletions from the autosomes	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Monosomies and deletions from the autosomes NOS	Is a	False	Deletion of part of autosome	Inferred relationship	Some
[X]Other deletions of part of a chromosome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Is a	False	Deletion of part of autosome	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
13q partial monosomy syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
4p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
partiellt monosomi 9p-syndrom	Is a	False	Deletion of part of autosome	Inferred relationship	Some
18q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
18p partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
11q partial monosomy syndrome	Is a	False	Deletion of part of autosome	Inferred relationship	Some
17q-deletionssyndromet	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2q31.1 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
1q41q42 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
3q29 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Proximal 16p11.2 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Distal monosomy 6p (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
14q11.2 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
14q12 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
15q14 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
16p11.2p12.2 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
16p13.11 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
19p13.12 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
19q13.11 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
20p12.3 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2p15p16.1 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2p21 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2q23.1 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2q24 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
2q32q33 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
5q14.3 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
6p22 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
6q25 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
6q terminal deletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Deletion 5q35	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Chromosome Xp22.3 microdeletion syndrome (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 2 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 3 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 4 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 5 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 6 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 7 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 8 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 9 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 10 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 11 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 12 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 13 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 14 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 15 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 16 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 17 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 18 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 19 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 20 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 21 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 22 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Deletion of part of chromosome 1 (disorder)	Is a	True	Deletion of part of autosome	Inferred relationship	Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Is a	False	Deletion of part of autosome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378508010	Deletion of part of autosome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645144014	Deletion of part of autosome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478781000052110	deletion av del av autosom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)