1293151000168105: Detection of GJB2 (gap junction protein beta 2) gene mutation in chorionic villi specimen (procedure)

• SNOMED CT Concept\Procedure\...
• \Procedure by method\Evaluation procedure\Laboratory test\Genetic test\Molecular genetic test\Chorionic villi GJB2 mutation detection test
• \Laboratory procedure\Laboratory test\Genetic test\Molecular genetic test\Chorionic villi 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
3302091000168114	Detection of GJB2 (gap junction protein beta 2) gene mutation in chorionic villi specimen (procedure)	en	Fully specified name	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302101000168116	Detection of GJB2 (gap junction protein beta 2) gene mutation in chorionic villi specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302111000168118	Chorionic villi GJB2 mutation detection test	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3302121000168113	Detection of CX26 (connexin 26) gene mutation in chorionic villi specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3303701000168112	Detection of NSRD1 gene mutation in chorionic villi specimen	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3313491000168112	Chorionic villi 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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