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726351005: Partial trisomy of chromosome 12 (disorder)


Status: current, Defined. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498300016 Partial trisomy of chromosome 12 en Synonym Active Case insensitive SNOMED CT core
3498301017 Duplication of chromosome 12 en Synonym Active Case insensitive SNOMED CT core
3498302012 Partial trisomy of chromosome 12 (disorder) en Fully specified name Active Case insensitive SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy of chromosome 12 Is a Anomaly of chromosome pair 12 false Inferred relationship Some
Partial trisomy of chromosome 12 Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
Partial trisomy of chromosome 12 Associated morphology Partial trisomy true Inferred relationship Some 1
Partial trisomy of chromosome 12 Occurrence Congenital true Inferred relationship Some 1
Partial trisomy of chromosome 12 Finding site Chromosome pair 12 true Inferred relationship Some 1
Partial trisomy of chromosome 12 Is a Trisomy 12 true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
12p partial trisomy syndrome Is a True Partial trisomy of chromosome 12 Inferred relationship Some
12q partial trisomy syndrome Is a True Partial trisomy of chromosome 12 Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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