897545002: Distal duplication of chromosome 21 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

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

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\Distal duplication of chromosome 21

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

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

4034286014 Distal duplication of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034287017 Distal duplication of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042141019 Distal partial trisomy 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11838351000172119 duplication distale du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4180491000172113 distale duplicatie van chromosoom 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4180501000172115 distale partiële trisomie 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal duplication of chromosome 21	Is a	Anomaly of chromosome pair 21	false	Inferred relationship	Some
Distal duplication of chromosome 21	Is a	Autosomal duplication (disorder)	false	Inferred relationship	Some
Distal duplication of chromosome 21	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal duplication of chromosome 21	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1
Distal duplication of chromosome 21	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal duplication of chromosome 21	Is a	Partial trisomy of chromosome 21	true	Inferred relationship	Some

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