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1336122005: Small deletion (finding)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5363498010 Small deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5363500011 Small deletion (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5363499019 A deletion typically less than 50 base pairs on a single locus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Small deletion Is a Genetic mutation true Inferred relationship Some
Small deletion Interprets Genetic test (procedure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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