726345000: partiële trisomie van chromosoom 6 (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 6\Partial trisomy of chromosome 6

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6

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

3498282011 Duplication of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498283018 Partial trisomy of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498284012 Partial trisomy of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7991711000146118 partiële trisomie van chromosoom 6 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991721000146111 partiële trisomie van chromosoom 6 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991731000146113 syndroom van partiële trisomie 6 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 6	Is a	Anomaly of chromosome pair 6	true	Inferred relationship	Some
Partial trisomy of chromosome 6	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 6	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 6	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 6	Finding site	Chromosome pair 6	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 6	Inferred relationship	Some
6p partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 6	Inferred relationship	Some
Distal trisomy 6p syndrome (disorder)	Is a	False	Partial trisomy of chromosome 6	Inferred relationship	Some

This concept is not in any reference sets