1153583005: deletie van gedeelte van korte arm van chromosoom 5 (aandoening)

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

\Disorder of foetus and/or newborn\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 5 (disorder)\Partial deletion of short arm of chromosome 5

\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Partial deletion of short arm of chromosome 5

\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 5 (disorder)\Partial deletion of short arm of chromosome 5

\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Partial deletion of short arm of chromosome 5

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

4565146017 Partial deletion of short arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4565147014 Partial monosomy of chromosome 5p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4565148016 Deletion of part of short arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4565149012 Deletion of part of short arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

12896631000146117 deletie van gedeelte van korte arm van chromosoom 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12896641000146113 deletie van gedeelte van korte arm van chromosoom 5 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12896661000146114 partiële deletie van korte arm van chromosoom 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial deletion of short arm of chromosome 5	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
Partial deletion of short arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial deletion of short arm of chromosome 5	Is a	Deletion of part of chromosome 5 (disorder)	true	Inferred relationship	Some
Partial deletion of short arm of chromosome 5	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Partial deletion of short arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial deletion of short arm of chromosome 5	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Partial deletion of short arm of chromosome 5	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
5p partial monosomy syndrome	Is a	True	Partial deletion of short arm of chromosome 5	Inferred relationship	Some

This concept is not in any reference sets