55446002: Genetic mutation (finding)

SNOMED CT Concept\Clinical finding (finding)\Procedure related finding\Evaluation finding\Genetic finding\Genetic mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

92181010 Genetic mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

793806018 Genetic mutation (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5694521000172111 mutation génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

3646101000172118 genmutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

3646111000172115 genetische mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic mutation	Is a	Genetic finding	true	Inferred relationship	Some
Genetic mutation	Interprets	Laboratory test	false	Inferred relationship	Some
Genetic mutation	Finding method (attribute)	Procedure	false	Inferred relationship	Some
Genetic mutation	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Somatic mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Temperature-sensitive mutation (finding)	Is a	True	Genetic mutation	Inferred relationship	Some
Mitochondrial mutation (finding)	Is a	True	Genetic mutation	Inferred relationship	Some
Frame-shift mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Nonsense mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Reading-frame-shift mutation	Is a	False	Genetic mutation	Inferred relationship	Some
Suppressor mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Family history of gene mutation (situation)	Associated finding	True	Genetic mutation	Inferred relationship	Some	1
Acute respiratory distress in newborn with surfactant disorder	Due to	True	Genetic mutation	Inferred relationship	Some	5
Genetic disorder of surfactant dysfunction	Due to	True	Genetic mutation	Inferred relationship	Some	2
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	Due to	True	Genetic mutation	Inferred relationship	Some	1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)	Due to	False	Genetic mutation	Inferred relationship	Some	1
Family history of genetic mutation for hereditary nonpolyposis colon cancer (situation)	Associated finding	True	Genetic mutation	Inferred relationship	Some	1
Proteus syndrome	Is a	False	Genetic mutation	Inferred relationship	Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder)	Due to	True	Genetic mutation	Inferred relationship	Some	4
Male infertility with oligozoospermia due to single gene mutation	Due to	True	Genetic mutation	Inferred relationship	Some	3
Male infertility with azoospermia due to single gene mutation (disorder)	Due to	True	Genetic mutation	Inferred relationship	Some	4
Tumor mutational burden (finding)	Is a	True	Genetic mutation	Inferred relationship	Some

Reference Sets

Belgian subset for medical problems in patient health records