FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

55446002: genmutatie (bevinding)

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

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

\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:

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	False	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
Splice site mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Missense mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Synonymous single nucleotide substitution	Is a	True	Genetic mutation	Inferred relationship	Some
Structural variant (finding)	Is a	True	Genetic mutation	Inferred relationship	Some
Small deletion	Is a	True	Genetic mutation	Inferred relationship	Some
Small insertion	Is a	True	Genetic mutation	Inferred relationship	Some
Mutation of promoter (finding)	Is a	True	Genetic mutation	Inferred relationship	Some
UTR (untranslated region) mutation	Is a	True	Genetic mutation	Inferred relationship	Some
Common variable agammaglobulinemia due to CD-19 mutation (disorder)	Due to	True	Genetic mutation	Inferred relationship	Some	1
Congenital nephrotic syndrome due to WT-1 mutation (disorder)	Due to	True	Genetic mutation	Inferred relationship	Some	4

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

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
1469611000146114	genetische mutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4184661000146116	genmutatie (bevinding)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4184671000146110	genmutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14985001000146112	Een fout in het DNA, het erfelijk materiaal. Dan is de kans op ziekte soms groter.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)