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717973004: Chromosome 3q29 duplication syndrome (disorder)


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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome 3q29 duplication syndrome (disorder) Is a Anomaly of chromosome pair 3 false Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) Is a Duplication of chromosome false Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Chromosome 3q29 duplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Chromosome 3q29 duplication syndrome (disorder) Finding site Chromosome pair 3 true Inferred relationship Some 1
Chromosome 3q29 duplication syndrome (disorder) Is a Partial trisomy of chromosome 3 true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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