726358004: partiële trisomie van chromosoom 19 (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 19\Partial trisomy of chromosome 19

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19

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

3498321016 Duplication of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498322011 Partial trisomy of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498323018 Partial trisomy of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7991251000146113 partiële trisomie van chromosoom 19 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991261000146111 partiële trisomie van chromosoom 19 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991271000146117 syndroom van partiële trisomie 19 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 19	Is a	Anomaly of chromosome pair 19	true	Inferred relationship	Some
Partial trisomy of chromosome 19	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 19	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 19	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 19	Finding site	Chromosome pair 19	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
19q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 19	Inferred relationship	Some
Partial trisomy of short arm of chromosome 19 (disorder)	Is a	True	Partial trisomy of chromosome 19	Inferred relationship	Some

This concept is not in any reference sets