897510005: Distal trisomy 3q (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 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q partial trisomy syndrome\Distal trisomy 3q (disorder)

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

4034210010 Distal trisomy 3q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034211014 Distal trisomy 3q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11840221000172118 trisomie distale du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11840231000172115 trisomie distale du chromosome 3q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11840241000172110 trisomie distale 3q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5094121000172114 distale duplicatie op lange arm van chromosoom 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5094131000172112 distale trisomie 3q 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 trisomy 3q (disorder)	Is a	3q partial trisomy syndrome	true	Inferred relationship	Some
Distal trisomy 3q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 3q (disorder)	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
Distal trisomy 3q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 3q (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Distal trisomy 3q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 3q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets