726355001: partiële trisomie 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\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16

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

3498312017 Duplication of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498313010 Partial trisomy of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498314016 Partial trisomy of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7991011000146115 partiële trisomie 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)
7991021000146113 partiële trisomie 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)
7991031000146110 syndroom van partiële trisomie 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
Partial trisomy of chromosome 16	Is a	Anomaly of chromosome pair 16	true	Inferred relationship	Some
Partial trisomy of chromosome 16	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 16	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 16	Finding site	Chromosome pair 16	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndroom van partiële trisomie 16q	Is a	False	Partial trisomy of chromosome 16	Inferred relationship	Some
syndroom van partiële trisomie 16p	Is a	False	Partial trisomy of chromosome 16	Inferred relationship	Some
Duplication of part of short arm of chromosome 16 (disorder)	Is a	True	Partial trisomy of chromosome 16	Inferred relationship	Some
Duplication of part of long arm of chromosome 16 (disorder)	Is a	True	Partial trisomy of chromosome 16	Inferred relationship	Some

This concept is not in any reference sets