897544003: Distal trisomy 1q (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 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (disorder)

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Distal trisomy 1q (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

4034284012 Distal trisomy 1q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034285013 Distal trisomy 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11839641000172115 trisomie distale du chromosome 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11839651000172118 trisomie distale du bras long du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11839661000172116 trisomie distale 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5109471000172111 distale trisomie 1q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5109481000172114 distale duplicatie op lange arm van chromosoom 1 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 1q (disorder)	Is a	Autosomal duplication (disorder)	false	Inferred relationship	Some
Distal trisomy 1q (disorder)	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
Distal trisomy 1q (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Distal trisomy 1q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 1q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 1q (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Distal trisomy 1q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 1q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 1q (disorder)	Is a	Partial trisomy of long arm of chromosome 1 (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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Reference Sets