1003868002: proximale duplicatie van lange arm van chromosoom 18 (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 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Proximal duplication of long arm of chromosome 18

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166856015 Proximal duplication of long arm of chromosome 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4166857012 Proximal duplication of long arm of chromosome 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12277291000146118 proximale duplicatie van lange arm van chromosoom 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12277301000146119 proximale duplicatie van lange arm van chromosoom 18 (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
Proximal duplication of long arm of chromosome 18	Is a	18q partial trisomy syndrome	true	Inferred relationship	Some
Proximal duplication of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 18	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 18	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 18	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Characteristic

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Group

This concept is not in any reference sets