726370000: deletie van gedeelte van lange arm van chromosoom 3 (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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)

\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)

\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (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

3464868018 Deletion of part of long arm of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464869014 Deletion of part of long arm of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7878911000146111 deletie van gedeelte van lange arm van chromosoom 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7878921000146118 deletie van gedeelte van lange arm van chromosoom 3 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8776101000146119 partiële deletie van lange arm van chromosoom 3 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 3 (disorder)	Is a	Deletion of part of chromosome 3 (disorder)	true	Inferred relationship	Some
Deletion of part of long arm of chromosome 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 3 (disorder)	Finding site	Chromosome pair 3	false	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 3 (disorder)	Finding site	Chromosome pair 3	true	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 3 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 3 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 3 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 3 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3q29 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
3q13 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
3q26q27 microdeletion syndrome	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
Distal deletion of long arm of chromosome 3	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some
Proximal deletion of long arm of chromosome 3 (disorder)	Is a	True	Deletion of part of long arm of chromosome 3 (disorder)	Inferred relationship	Some

This concept is not in any reference sets