726354002: partiële trisomie van chromosoom 15 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (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

3498309015 Partial trisomy of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498310013 Partial trisomy of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498311012 Duplication of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7990981000146118 partiële trisomie van chromosoom 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7990991000146116 partiële trisomie van chromosoom 15 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7991001000146117 syndroom van partiële trisomie 15 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
Partial trisomy of chromosome 15 (disorder)	Is a	Anomaly of chromosome pair 15	true	Inferred relationship	Some
Partial trisomy of chromosome 15 (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 15 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 15 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 15 (disorder)	Finding site	Chromosome pair 15	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndroom van partiële trisomie 15q	Is a	False	Partial trisomy of chromosome 15 (disorder)	Inferred relationship	Some
Distal duplication of chromosome 15 (disorder)	Is a	True	Partial trisomy of chromosome 15 (disorder)	Inferred relationship	Some
Proximal duplication of chromosome 15 (disorder)	Is a	True	Partial trisomy of chromosome 15 (disorder)	Inferred relationship	Some
Partial duplication of long arm of chromosome 15 (disorder)	Is a	True	Partial trisomy of chromosome 15 (disorder)	Inferred relationship	Some

This concept is not in any reference sets