1003867007: Proximal duplication of long arm of chromosome 4 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4q partial trisomy syndrome\Proximal duplication of long arm of chromosome 4

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

4166854017 Proximal duplication of long arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166855016 Proximal duplication of long arm of chromosome 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7694161000241119 duplication proximale de 4q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7694171000241110 duplication proximale du bras long du chromosome 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal duplication of long arm of chromosome 4	Is a	4q partial trisomy syndrome	true	Inferred relationship	Some
Proximal duplication of long arm of chromosome 4	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 4	Occurrence	Congenital	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 4	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 4	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 4	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 4	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Reference Sets