1293161000168107: Detection of GJB2 (gap junction protein beta 2) gene mutation in whole blood specimen (procedure)

• SNOMED CT Concept\Procedure\...
• \Procedure by method\Evaluation procedure\Laboratory test\...
• \Genetic test\Molecular genetic test\Whole blood GJB2 mutation detection test
• \Blood test\Whole blood GJB2 mutation detection test
• \Body fluid analysis\Whole blood GJB2 mutation detection test
• \Laboratory procedure\Laboratory test\...
• \Genetic test\Molecular genetic test\Whole blood GJB2 mutation detection test
• \Blood test\Whole blood GJB2 mutation detection test
• \Body fluid analysis\Whole blood GJB2 mutation detection test

Status: current, Primitive. Date: 30-Apr 2019. Module: SNOMED Clinical Terms Australian extension

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302141000168119	Detection of GJB2 (gap junction protein beta 2) gene mutation in whole blood specimen (procedure)	en	Fully specified name	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302151000168117	Detection of GJB2 (gap junction protein beta 2) gene mutation in whole blood specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302181000168112	Whole blood GJB2 mutation detection test	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302191000168110	Detection of CX26 (connexin 26) gene mutation in whole blood specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302201000168113	Detection of NSRD1 gene mutation in whole blood specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3313481000168114	Whole blood GJB2 mutation detection test for hereditary hearing loss	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension

Expanded Value Set

Reference Sets

Procedure foundation reference set

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