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405824009: Genetic test (procedure)

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

Descriptions:

Id Description Lang Type Status Case? Module
2149654019 Genetic test (procedure) en Fully specified name Active Case insensitive SNOMED CT core
2157598014 Genetic test en Synonym Active Case insensitive SNOMED CT core

68 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic test Is a Laboratory test true Inferred relationship Some
Genetic test Method Evaluation - action false Inferred relationship Some
Genetic test Method Evaluation - action true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Positive genetic finding Interprets True Genetic test Inferred relationship Some 1
Negative genetic finding Interprets True Genetic test Inferred relationship Some 1
Normal genetic findings Interprets True Genetic test Inferred relationship Some 1
Breast cancer genetic marker of susceptibility negative Interprets False Genetic test Inferred relationship Some 1
Breast cancer genetic marker of susceptibility positive Interprets False Genetic test Inferred relationship Some 1
Breast cancer genetic marker of susceptibility positive Interprets True Genetic test Inferred relationship Some 1
Breast cancer genetic marker of susceptibility negative Interprets True Genetic test Inferred relationship Some 1
Point mutation Interprets True Genetic test Inferred relationship Some 1
Chromosome microdeletion Interprets True Genetic test Inferred relationship Some 1
Mitochondrial 1555 A to G mutation negative Interprets True Genetic test Inferred relationship Some 2
Mitochondrial 1555 A to G mutation positive Interprets True Genetic test Inferred relationship Some 2
Heterozygous protocadherin 19 gene mutation positive Interprets True Genetic test Inferred relationship Some 2
Human epidermal growth factor 2 gene amplification negative Interprets True Genetic test Inferred relationship Some 2
Aromatase excess syndrome Interprets True Genetic test Inferred relationship Some 1
Hereditary nonpolyposis colon cancer gene mutation positive Interprets False Genetic test Inferred relationship Some 1
Mosaic Turner syndrome Interprets True Genetic test Inferred relationship Some 2
Mixed gonadal dysgenesis Interprets True Genetic test Inferred relationship Some 3
Mosaicism 45, X or other cell line with abnormal sex chromosome Interprets True Genetic test Inferred relationship Some 2
Mosaicism 45, X; 46, XX Interprets True Genetic test Inferred relationship Some 1
Positive for tumour protein p53 Interprets True Genetic test Inferred relationship Some 3
Genetic susceptibility to genetic disorder Interprets True Genetic test Inferred relationship Some 1
Genetic susceptibility to cancer Interprets True Genetic test Inferred relationship Some 1
Hereditary non-polyposis colon cancer gene mutation positive Interprets True Genetic test Inferred relationship Some 2
Rhc negative Interprets True Genetic test Inferred relationship Some 2
Rhc positive Interprets True Genetic test Inferred relationship Some 2
Human leucocyte antigen phenotyping Is a False Genetic test Inferred relationship Some
CYP2D6 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
UGT1A1 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
UGT1A1 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
UGT1A1 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
Thiopurine S-methyltransferase poor metaboliser Interprets True Genetic test Inferred relationship Some 1
Thiopurine S-methyltransferase intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
Thiopurine S-methyltransferase normal metaboliser Interprets True Genetic test Inferred relationship Some 1
DPYD poor metaboliser Interprets True Genetic test Inferred relationship Some 1
DPYD intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
DPYD normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
SLCO1B1 poor function Interprets True Genetic test Inferred relationship Some 1
SLCO1B1 decreased function Interprets True Genetic test Inferred relationship Some 1
SLCO1B1 normal function Interprets True Genetic test Inferred relationship Some 1
SLCO1B1 increased function Interprets True Genetic test Inferred relationship Some 1
CYP2B6 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2B6 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2B6 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
Proteus syndrome Interprets False Genetic test Inferred relationship Some 3
Paving stone naevus Interprets False Genetic test Inferred relationship Some 3
Port-wine stain in proteus syndrome Interprets False Genetic test Inferred relationship Some 3
CYP3A5 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
Wild type phenotype Interprets False Genetic test Inferred relationship Some
Mutated phenotype Interprets False Genetic test Inferred relationship Some
CYP2D6 extensive metaboliser Interprets False Genetic test Inferred relationship Some 1

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Reference Sets

Testing method reference set

Procedure foundation reference set

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