726361003: partiële trisomie van chromosoom 21 (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 21\Partial trisomy of chromosome 21

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21

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

3498330012 Duplication of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498331011 Partial trisomy of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498332016 Partial trisomy of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7991401000146111 partiële trisomie van chromosoom 21 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991411000146113 partiële trisomie van chromosoom 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991421000146115 syndroom van partiële trisomie 21 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 21	Is a	Anomaly of chromosome pair 21	true	Inferred relationship	Some
Partial trisomy of chromosome 21	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 21	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 21	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 21	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Proximal duplication of chromosome 21 (disorder)	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Some
21q partial trisomy (disorder)	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Some
Distal duplication of chromosome 21	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Some

Reference Sets