254274004: Deletion of part of autosome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome

\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of part of autosome	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Deletion of part of autosome	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Deletion of part of autosome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Deletion of part of autosome	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Deletion of part of autosome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Deletion of part of autosome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Deletion of part of autosome	morphologie associée (attribut)	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Deletion of part of autosome	localisation d'une constatation (attribut)	Chromosome (cell structure)	true	Inferred relationship	Some	1
Deletion of part of autosome	survenue (attribut)	congénital	false	Inferred relationship	Some
Deletion of part of autosome	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some
Deletion of part of autosome	est un(e) (attribut)	Monosomy and deletion from autosome	true	Inferred relationship	Some

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