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254274004: Deletion of part of autosome (disorder)

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
5083361000241113 délétion d'une partie de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

242 descendants. Search Descendants:

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 anomalie congénitale 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 anomalie congénitale 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
12p partial monosomy syndrome 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
16q partial monosomy syndrome 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
15q partial monosomy syndrome 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
22q11 partial monosomy syndrome 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
9p partial monosomy syndrome 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
Deletion of long arm of chromosome 17 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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