726388008: deletie van gedeelte van korte 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)\Deletion of part of short arm of chromosome 16 (disorder)

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (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 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (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

3464778014 Deletion of part of short arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464779018 Deletion of part of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7879001000146115 deletie van gedeelte van korte 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)

7879011000146118 deletie van gedeelte van korte 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)

8776241000146113 partiële deletie van korte 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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of part of short arm of chromosome 16 (disorder)	Is a	Deletion of part of chromosome 16 (disorder)	true	Inferred relationship	Some
Deletion of part of short arm of chromosome 16 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 16 (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 16 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 16 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16p11.2p12.2 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
16p13.11 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
Distal 16p11.2 microdeletion syndrome	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
16p12.2 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
Proximal 16p11.2 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Is a	True	Deletion of part of short arm of chromosome 16 (disorder)	Inferred relationship	Some

This concept is not in any reference sets