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429442006: Autosomal duplication (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2008. Module: SNOMED CT core module

Descriptions:

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


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 Existential restriction modifier
Autosomal duplication Is a Duplication of chromosome true Inferred relationship Existential restriction modifier
Autosomal duplication Finding site Chromosome structure false Inferred relationship Existential restriction modifier
Autosomal duplication Finding site Chromosome structure true Inferred relationship Existential restriction modifier 1

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

This concept is not in any reference sets

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