726396003: deletie van gedeelte van lange 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 long arm of chromosome 20 (disorder)

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

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of long 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

3467371010 Deletion of part of long arm of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3467372015 Deletion of part of long arm of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7878861000146115 deletie van gedeelte van lange 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)

7878871000146114 deletie van gedeelte van lange 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)

8776061000146116 partiële deletie van lange 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 long arm of chromosome 20 (disorder)	Is a	Deletion of part of chromosome 20 (disorder)	true	Inferred relationship	Some
Deletion of part of long arm of chromosome 20 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 20 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 20 (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 20 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 20 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 20 (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 20 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 20 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 20 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 20 (disorder)	Inferred relationship	Some
20q13.33 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 20 (disorder)	Inferred relationship	Some
distale monosomie 20q (aandoening)	Is a	False	Deletion of part of long arm of chromosome 20 (disorder)	Inferred relationship	Some
20q11.2 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 20 (disorder)	Inferred relationship	Some

Reference Sets