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429442006: Autosomal duplication (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
2693522016 Autosomal duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


232 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal duplication (disorder) est un(e) (attribut) Autosomal chromosomal disorder (disorder) true Inferred relationship Some
Autosomal duplication (disorder) est un(e) (attribut) Duplication of chromosome true Inferred relationship Some
Autosomal duplication (disorder) localisation d'une constatation (attribut) Chromosome structure (cell structure) false Inferred relationship Some
Autosomal duplication (disorder) localisation d'une constatation (attribut) Chromosome structure (cell structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 1p est un(e) (attribut) False Autosomal duplication (disorder) Inferred relationship Some
Distal duplication of chromosome 21 est un(e) (attribut) False Autosomal duplication (disorder) Inferred relationship Some
Distal trisomy 1q (disorder) est un(e) (attribut) False Autosomal duplication (disorder) Inferred relationship Some
Trisomy and partial trisomy of autosome est un(e) (attribut) True Autosomal duplication (disorder) Inferred relationship Some

This concept is not in any reference sets

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