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429442006: Autosomal duplication (disorder)


Status: current, Primitive. Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2690083019 Autosomal duplication (disorder) en Fully specified name Active Case insensitive SNOMED CT core
2693522016 Autosomal duplication en Synonym Active Case insensitive SNOMED CT core


232 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal duplication Is a Autosomal chromosomal disorder true Inferred relationship Some
Autosomal duplication Is a Duplication of chromosome true Inferred relationship Some
Autosomal duplication Finding site Chromosome structure false Inferred relationship Some
Autosomal duplication Finding site Chromosome structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 1p Is a False Autosomal duplication Inferred relationship Some
Distal duplication of chromosome 21 Is a False Autosomal duplication Inferred relationship Some
Distal trisomy 1q Is a False Autosomal duplication Inferred relationship Some
Trisomy and partial trisomy of autosome Is a True Autosomal duplication Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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