1003902003: Proximal deletion of long arm of chromosome 2 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Proximal deletion of long arm of chromosome 2

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Proximal deletion of long arm of chromosome 2

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Proximal deletion of long arm of chromosome 2

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Proximal deletion of long arm of chromosome 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166927016 Proximal deletion of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166928014 Proximal deletion of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7695061000241116 délétion proximale de 2q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7695071000241112 délétion proximale du bras long du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal deletion of long arm of chromosome 2	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 2	Is a	Deletion of part of long arm of chromosome 2 (disorder)	true	Inferred relationship	Some
Proximal deletion of long arm of chromosome 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 2	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 2	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

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Reference Sets