1003901005: Proximal deletion of long arm of chromosome 18 (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\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal deletion of long arm of chromosome 18

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal deletion of long arm of chromosome 18

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal deletion of long arm of chromosome 18

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal deletion of long arm of chromosome 18

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

4166925012 Proximal deletion of long arm of chromosome 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166926013 Proximal deletion of long arm of chromosome 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5063091000172111 proximale deletie van lange arm van chromosoom 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal deletion of long arm of chromosome 18	Is a	18q partial monosomy syndrome	true	Inferred relationship	Some
Proximal deletion of long arm of chromosome 18	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 18	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

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Active

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Characteristic

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Reference Sets