1162488007: duplicatie van gedeelte van lange arm 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\Duplication of part of long arm of chromosome 16 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4589776015 Duplication of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589777012 Partial trisomy of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589778019 Duplication of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13115521000146113 duplicatie van gedeelte van lange arm 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)

13115531000146110 partiële trisomie van lange arm 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)

13115541000146119 duplicatie van gedeelte van lange arm 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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Duplication of part of long arm of chromosome 16 (disorder)	Is a	Partial trisomy of chromosome 16	true	Inferred relationship	Some
Duplication of part of long arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Duplication of part of long arm of chromosome 16 (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Duplication of part of long arm of chromosome 16 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 16q (disorder)	Is a	True	Duplication of part of long arm of chromosome 16 (disorder)	Inferred relationship	Some
Proximal duplication of long arm of chromosome 16 (disorder)	Is a	True	Duplication of part of long arm of chromosome 16 (disorder)	Inferred relationship	Some

This concept is not in any reference sets