55446002: Genetic mutation (finding)

SNOMED CT Concept\constatation clinique\Evaluation finding\Genetic finding\Genetic mutation (finding)

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic mutation (finding)	est un(e) (attribut)	Genetic finding	true	Inferred relationship	Some
Genetic mutation (finding)	interprète (attribut)	analyse de laboratoire	false	Inferred relationship	Some
Genetic mutation (finding)	méthode de constatation (attribut)	Procedure	false	Inferred relationship	Some
Genetic mutation (finding)	interprète (attribut)	Genetic test (procedure)	true	Inferred relationship	Some	1

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

This concept is not in any reference sets