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1162487002: Duplication of part of short arm of chromosome 16 (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4589772018 Duplication of part of short arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589774017 Duplication of part of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589775016 Partial duplication of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of part of short arm of chromosome 16 (disorder) Is a Partial trisomy of chromosome 16 true Inferred relationship Some
Duplication of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Finding site Chromosome pair 16 true Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal 16p11.2 microduplication syndrome (disorder) Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some
16p13.11 microduplication syndrome (disorder) Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some
16p13.3 microduplication syndrome Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some
16p11.2p12.2 microduplication syndrome Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some

This concept is not in any reference sets

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