726397007: deletie van gedeelte van korte arm van chromosoom 20 (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 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)

\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 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3467373013 Deletion of part of short arm of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3467374019 Deletion of part of short arm of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7879111000146117 deletie van gedeelte van korte arm van chromosoom 20 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7879121000146110 deletie van gedeelte van korte arm van chromosoom 20 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8776391000146111 partiële deletie van korte arm van chromosoom 20 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
Deletion of part of short arm of chromosome 20 (disorder)	Is a	Deletion of part of chromosome 20 (disorder)	true	Inferred relationship	Some
Deletion of part of short arm of chromosome 20 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 20 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 20 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 20 (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 20 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 20 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
20p12.3 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 20 (disorder)	Inferred relationship	Some
20p13 microdeletion syndrome	Is a	True	Deletion of part of short arm of chromosome 20 (disorder)	Inferred relationship	Some
20p12.2 deletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 20 (disorder)	Inferred relationship	Some

This concept is not in any reference sets