726366008: deletie van gedeelte van chromosoom 2 (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 2 (disorder)

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (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 2 (disorder)

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (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

3448801010 Deletion of part of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448802015 Deletion of part of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7878541000146119 deletie van gedeelte van chromosoom 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7878551000146116 deletie van gedeelte van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8775781000146119 partiële deletie van chromosoom 2 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 chromosome 2 (disorder)	Is a	Anomaly of chromosome pair 2	true	Inferred relationship	Some
Deletion of part of chromosome 2 (disorder)	Is a	Deletion of part of autosome	true	Inferred relationship	Some
Deletion of part of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Deletion of part of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of chromosome 2 (disorder)	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deletion of part of long arm of chromosome 2 (disorder)	Is a	True	Deletion of part of chromosome 2 (disorder)	Inferred relationship	Some
Deletion of part of short arm of chromosome 2 (disorder)	Is a	True	Deletion of part of chromosome 2 (disorder)	Inferred relationship	Some

Reference Sets