1162478006: deletie van gedeelte van lange arm van chromosoom 16 (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 16 (disorder)\Partial deletion of long arm of chromosome 16

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16

\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 16 (disorder)\Partial deletion of long arm of chromosome 16

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4589698018 Partial deletion of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589699014 Deletion of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589700010 Deletion of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13115381000146116 deletie van gedeelte van lange arm van chromosoom 16 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13115391000146119 partiële deletie van lange arm van chromosoom 16 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13115401000146116 deletie van gedeelte van lange arm van chromosoom 16 (aandoening) nl Fully specified name 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 long arm of chromosome 16	Is a	Deletion of part of chromosome 16 (disorder)	true	Inferred relationship	Some
Partial deletion of long arm of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial deletion of long arm of chromosome 16	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Partial deletion of long arm of chromosome 16	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Partial deletion of long arm of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 16	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 16	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.1 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Some
16q24.3 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Some
Distal deletion of long arm of chromosome 16	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Some
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Some

This concept is not in any reference sets