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405825005: Molecular genetic test (procedure)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2004. Module: SNOMED CT core module

Descriptions:

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

278 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 Existential restriction modifier
Molecular genetic test Method Evaluation - action false Inferred relationship Existential restriction modifier
Molecular genetic test Method Evaluation - action true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
BRCA1 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
BRCA2 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Neurofibromatosis type 1 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Von Hippel-Lindau disease mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Neurofibromatosis type 2 mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia type 2A mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia type 2B mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Familial medullary thyroid carcinoma mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
RET proto-oncogene mutation analysis Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Huntington disease gene mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Blood screen for Tay Sachs disease Is a False Molecular genetic test Inferred relationship Existential restriction modifier
Quantitation of BCR-ABL t(9;22) translocation Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Screen for 29 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Detection of mutation in apolipoprotein B-100 gene Is a True Molecular genetic test Inferred relationship Existential restriction modifier
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 Existential restriction modifier
Detection of BCR-ABL t(9;22) translocation Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Screen for 20 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Factor VIII mutation carrier detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Detection of G20210A mutation in gene of coagulation factor II Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Detection of mutation in low density lipoprotein receptor gene Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Detection of Arg3527Gln mutation in apolipoprotein B-100 gene Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Testing for known gene mutation in family member Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Targeted analysis for gene mutation Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 1A gene detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Janus kinase 2 V617F mutation analysis Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Factor II (prothrombin) G20210A mutation detection test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Whole genome sequencing (procedure) Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Screen for Janus kinase 2 gene mutation Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Janus kinase 2 exon 12 mutation analysis Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Immunoglobulin heavy chain locus mutation screening test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
BCR-ABL gene ribonucleic acid transcript measurement (procedure) Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Immunoglobulin heavy chain gene study Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Mitochondrial 1555 A to G mutation analysis (procedure) Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Protocadherin 19 mutation analysis Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Urine prostate cancer antigen 3 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Breakpoint cluster region c-abl oncogene 1 non-receptor tyrosine kinase targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Myeloproliferative disorder comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
del 22q11 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
von Willebrand factor single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
von Willebrand factor comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cytochrome P450, family 4, subfamily F, polypeptide 2 p.Val433Met single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cytochrome P450, family 2, subfamily C, polypeptide 9 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Vitamin K epoxide reductase complex subunit 1 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Vitamin K epoxide reductase complex subunit 1 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type VII, alpha 1 chain comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Hepatitis C targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Tubercle bacillus targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Meticillin-resistant Staphylococcus aureus targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type IV, alpha 4 chain comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type IV, alpha 3 chain (Goodpasture antigen) comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type IV, alpha 5 chain single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type IV, alpha 5 chain linkage genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Collagen, type IV, alpha 5 chain comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Human leucocyte antigen class II comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Human leucocyte antigen class I comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Aneuploidy targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
V-raf murine sarcoma viral oncogene homolog B comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
mutS homolog 2 promoter targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
mutL homolog 1 promoter targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Kirsten rat sarcoma viral oncogene homolog targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
V-raf murine sarcoma viral oncogene homolog B p.Val600Glu single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glucosidase alpha acid comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Solute carrier family 37 (glucose-6-phosphate transporter) member 4 comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glucose-6-phosphatase catalytic subunit comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Solute carrier family 37 (glucose-6-phosphate transporter) member 4 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphorylase glycogen (muscle) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphorylase glycogen (liver) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphorylase kinase gamma 2 (testis) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphorylase kinase beta single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphorylase kinase alpha 2 (liver) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphoglycerate mutase 2 (muscle) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Phosphofructokinase (muscle) single mutation test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Lactate dehydrogenase A single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Lysosomal associated membrane protein 2 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glycogen synthase 2 (liver) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glycogen synthase 1 (muscle) single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glucan (1,4-alpha-) branching enzyme 1 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glucosidase alpha acid single mutation test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glucose-6-phosphatase catalytic subunit single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Enolase 3 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Aldolase A fructose bisphosphate single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Amylo-alpha-1,6-glucosidase single mutation test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Glycogen storage diseases comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Learning disability microarray targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Learning disability microarray comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Mismatch repair microsatellite instability genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Fragile X linkage genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Fragile X targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Fragile X comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cystic fibrosis transmembrane conductance regulator linkage genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cystic fibrosis transmembrane conductance regulator single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cystic fibrosis transmembrane conductance regulator targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Cystic fibrosis transmembrane conductance regulator comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Proprotein convertase subtilisin/kexin type 9 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Proprotein convertase subtilisin/kexin type 9 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Apolipoprotein B-100 single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Apolipoprotein B-100 targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Low density lipoprotein receptor linkage genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Low density lipoprotein receptor single mutation genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Low density lipoprotein receptor comprehensive genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier
Familial hypercholesterolaemia targeted genetic test Is a True Molecular genetic test Inferred relationship Existential restriction modifier

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