405824009: genetische test (verrichting)

SNOMED CT Concept\Procedure\...

\Procedure by method\Evaluation procedure (procedure)\Laboratory test\Genetic test (procedure)

\Laboratory procedure\Laboratory test\Genetic test (procedure)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic test (procedure)	Is a	Laboratory test	true	Inferred relationship	Some
Genetic test (procedure)	Method	Evaluation - action	false	Inferred relationship	Some
Genetic test (procedure)	Method	Evaluation - action	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 normal metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Atopy	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
N-acetyltransferase 2 slow acetylator (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Human leukocyte antigen genotype determination	Is a	True	Genetic test (procedure)	Inferred relationship	Some
Genetic susceptibility to malignant hyperthermia (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily C member 9 1/3 intermediate metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily C member 9 3/3 poor metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily C member 9 2/3 poor metabolizer (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Post-transcriptional genetic ribonucleic acid processing (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Human epidermal growth factor receptor 2 gene amplification detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Tumor mutational burden (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	3
High tumour mutational burden	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	3
Low tumor mutational burden (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	7
Hypermelanotic pigmentary mosaicism	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Hereditary non-polyposis colon cancer gene mutation detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Mitochondrial 1555 A to G mutation not detected	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Mitochondrial 1555 A to G mutation detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Heterozygous protocadherin 19 gene mutation detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Human leukocyte antigen B27 not detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Human epidermal growth factor 2 gene amplification not detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic predisposition to malignant neoplasm of prostate (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Heterozygous NFKBIA gene mutation detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Triplicated alpha globin gene	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Hereditary alpha-tryptasemia trait detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic screening for disorder	Is a	True	Genetic test (procedure)	Inferred relationship	Some
Splice site mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Missense mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Synonymous single nucleotide substitution	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Intron 22 inversion (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Intron 1 inversion (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Structural variant (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Small deletion	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Small insertion	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Mutation of promoter (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
UTR (untranslated region) mutation	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Mosaic Turner syndrome	Interprets	False	Genetic test (procedure)	Inferred relationship	Some
Rhc negative	Interprets	False	Genetic test (procedure)	Inferred relationship	Some
Rhc positive	Interprets	False	Genetic test (procedure)	Inferred relationship	Some
SMARCB1 gene mutation positive (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
BRAF mutation negative (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
Epidermal growth factor receptor mutation negative (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
KRAS mutation present (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
ALK-break absent (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
Isocitrate dehydrogenase mutation not detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Isocitrate dehydrogenase mutation not detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
Isocitrate dehydrogenase mutation detected	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
NRAS mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
c-KIT mutation detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Chromosome break not detected	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
ROS break present (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Epidermal growth factor receptor mutation detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
KRAS mutation not detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
KRAS mutation not detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
ROS break unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Microsatellite instability present	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
NRAS mutation detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Isocitrate dehydrogenase mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
BRAF mutation detected	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
c-KIT mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Reactive oxygen species break not detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
KRAS mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Chromosome break unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
c-KIT mutation absent (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Platelet derived growth factor receptors mutation detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Epidermal growth factor receptor mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
ALK break unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Microsatellite instability absent (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
NRAS mutation absent (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
PDGFR mutation not detected	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Gene mutation not detected	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
PDGFR mutation not detected	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	2
Microsatellite instability not assessible (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Chromosome break present (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
ALK break present (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
PDGFR mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
BRAF mutation unassessable (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
Testing for unknown gene mutation in family member (procedure)	Is a	True	Genetic test (procedure)	Inferred relationship	Some
BRCA1 associated protein 1 inactivation detected (finding)	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
Anaplastic lymphoma kinase not detected (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
Anaplastic lymphoma kinase detected	Interprets	False	Genetic test (procedure)	Inferred relationship	Some	1
BAP-1 inactivation unassessible (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
BAP-1 inactivation not present	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1
BAP-1 inactivation not present	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	2
SMARCB1 gene mutation positive (finding)	Interprets	True	Genetic test (procedure)	Inferred relationship	Some	1

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
2149654019	Genetic test (procedure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2157598014	Genetic test	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10608871000146118	genetisch onderzoek	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10608881000146116	genetische test	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10794661000146112	genetische test (verrichting)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11674681000146111	erfelijkheidsonderzoek	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13086241000146119	Onderzoek of iemand een bepaalde erfelijke aandoening heeft of daar aanleg voor heeft.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)