444124004: sequentie-analyse van exon van gen (verrichting)

• SNOMED CT Concept\Procedure\Laboratory procedure\Laboratory procedure categorized by method\Chromosome analysis, cytogenetic procedure AND/OR molecular biology method\Molecular biology method\Nucleic acid sequencing (procedure)\Sequencing of exon of gene (procedure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2010. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2837189016	Sequencing of exon of gene (procedure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2840542011	Sequencing of exon of gene	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13004201000146111	sequencing van genexon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13031691000146110	sequencen van exon van gen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13061321000146111	sequentie-analyse van exon van gen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13061331000146113	sequentie-analyse van exon van gen (verrichting)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13064111000146117	exoomsequencing	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13051271000146112	Dit is een techniek van DNA-onderzoek die erfelijke aanleg en aangeboren aandoeningen opspoort. Bij whole exome sequencing kijkt men niet naar het hele DNA, maar alleen naar dat deel van het DNA dat het belangrijkste is voor de werking van een cel. Dit is het gedeelte dat bestaat uit alle genen (het exoom).	nl	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13937161000146114	Whole exome sequencing (WES); techniek waarmee de oorzaak van erfelijke aandoeningen opgespoord kan worden; alle genen van één persoon worden tegelijkertijd in kaart gebracht.	nl	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14983851000146119	Methode voor onderzoek naar erfelijkheid.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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

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