717973004: Chromosome 3q29 duplication syndrome (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 3\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5401658019 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3310742010 Chromosome 3q29 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310743017 3q29 microduplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310744011 Trisomy 3q29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310745012 Chromosome 3q29 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5996201000241119 syndrome de microduplication 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5996211000241117 trisomie 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3426711001000117 Mikroduplikationssyndrom 3q29 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	Anomaly of chromosome pair 3	false	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	Duplication of chromosome	false	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Occurrence	Congenital	true	Inferred relationship	Some	1
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	Partial trisomy of chromosome 3	true	Inferred relationship	Some

Inbound Relationships

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Active

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)