1306850007: 'missense'-mutatie (bevinding)

SNOMED CT Concept\Clinical finding (finding)\...

\Laboratory test finding (finding)\Genetic finding\Genetic mutation\Missense mutation

\Procedure related finding\Evaluation finding\Genetic finding\Genetic mutation\Missense mutation

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

Descriptions:

Id Description Lang Type Status Case? Module

5316192012 Missense en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5316193019 Missense mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5316194013 Missense mutation (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

15098801000146112 'missense'-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

15098811000146114 'missense'-mutatie (bevinding) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets