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405825005: Molecular genetic test (procedure)

Status: current, Primitive. Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2149655018 Molecular genetic test (procedure) en Fully specified name Active Case insensitive SNOMED CT core
2157599018 Molecular genetic test en Synonym Active Case insensitive SNOMED CT core

53 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Molecular genetic test Is a Genetic test true Inferred relationship Some
Molecular genetic test Method Evaluation - action false Inferred relationship Some
Molecular genetic test Method Evaluation - action true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Bone marrow JAK2 exon 12 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood JAK2 exon 12 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Chorionic villi GJB2 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood GJB2 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood DMPK mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood FH-1 hybrid mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood spinocerebellar ataxia mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood MECP2 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Bone marrow KIT D816V mutation detection test Is a True Molecular genetic test Inferred relationship Some
Qualitative bone marrow CBFB-MYH11 inv(16) mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood CNBP mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood MEFV mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood mitochondrial DNA mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood PML-RARA mutation detection test Is a True Molecular genetic test Inferred relationship Some
Bone marrow PML-RARA mutation detection test Is a True Molecular genetic test Inferred relationship Some
Bone marrow FIP1L1-PDGFRA mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood FIP1L1-PDGFRA mutation detection test Is a True Molecular genetic test Inferred relationship Some
Qualitative whole blood CBFB-MYH11 inv(16) mutation detection test Is a True Molecular genetic test Inferred relationship Some
KRAS mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood MTHFR mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood JAK2 exon 14 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Bone marrow JAK2 exon 14 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood HBA1 and HBA2 mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood CALR mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood HBB mutation detection test Is a True Molecular genetic test Inferred relationship Some
Bone marrow CALR mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood MPL mutation detection test Is a True Molecular genetic test Inferred relationship Some
Tumour tissue ALK mutation detection test Is a True Molecular genetic test Inferred relationship Some
Whole blood common CFTR mutations detection test Is a True Molecular genetic test Inferred relationship Some
Brain tissue 1p and 19q mutation detection test using FISH screening Is a True Molecular genetic test Inferred relationship Some
Tumour tissue EGFR mutation detection test Is a True Molecular genetic test Inferred relationship Some
BRCA1 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
BRCA2 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Neurofibromatosis type 1 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Von Hippel-Lindau disease mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Neurofibromatosis type 2 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Multiple endocrine neoplasia type 2A mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Multiple endocrine neoplasia type 2B mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Familial medullary thyroid carcinoma mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
RET proto-oncogene mutation analysis Is a True Molecular genetic test Inferred relationship Some
Huntington disease gene mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Blood (WBC) screen for Tay Sachs disease Is a False Molecular genetic test Inferred relationship Some
Quantitation of BCR-ABL translocation Is a True Molecular genetic test Inferred relationship Some
Cystic fibrosis 29 common mutation test Is a True Molecular genetic test Inferred relationship Some
Detection of mutation in apolipoprotein B-100 gene Is a True Molecular genetic test Inferred relationship Some
Detection of Arg506Gln mutation in gene of coagulation factor V gene and detection of G20210A mutation in gene of coagulation factor II Is a True Molecular genetic test Inferred relationship Some
Detection of BCR-ABL translocation Is a True Molecular genetic test Inferred relationship Some
Cystic fibrosis 20 common mutation test Is a True Molecular genetic test Inferred relationship Some
Factor VIII mutation carrier detection test Is a True Molecular genetic test Inferred relationship Some
Factor II (prothrombin) G20210A mutation detection Is a True Molecular genetic test Inferred relationship Some
Detection of mutation in low density lipoprotein receptor gene Is a True Molecular genetic test Inferred relationship Some
Detection of Arg3500Gln mutation in apolipoprotein B-100 gene Is a True Molecular genetic test Inferred relationship Some
Testing for known gene mutation in family member Is a True Molecular genetic test Inferred relationship Some
Targeted analysis for gene mutation Is a True Molecular genetic test Inferred relationship Some

Reference Sets

Testing method reference set

Procedure foundation reference set

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