Evaluation finding
Laboratory test finding
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Genetic finding (finding)
Genetic finding
Genetic observations
genetische bevinding
Id106221001
StatusPrimitive
InterpretsGenetic test
ICD-10 complex map reference set
Target
RuleTRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified
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Abnormal chromosomal and genetic finding on antenatal screening of mother
Allelic exclusion
Allotype
Alteration of genetic material
Aromatase excess syndrome
BAP-1 inactivation unassessible
Barr body absent, nuclear sex male
Barr body present, nuclear sex female
Barr body, more than one present per cell
Chromosomal inheritance
Chromosome break unassessable2
Chromosome microdeletion
Consanguinity
CYP2B6 intermediate metabolizer
CYP2B6 normal metabolizer
CYP2B6 poor metabolizer
CYP2B6 rapid metabolizer
CYP2B6 ultra-rapid metabolizer
CYP2C19 intermediate metabolizer
CYP2C19 normal metabolizer
CYP2C19 poor metabolizer
CYP2C19 rapid metabolizer
CYP2C19 ultra-rapid metabolizer
CYP2C9 intermediate metabolizer1
CYP2C9 normal metabolizer
CYP2C9 poor metabolizer2
CYP2D6 intermediate metabolizer
CYP2D6 normal metabolizer
CYP2D6 poor metabolizer
CYP2D6 ultra-rapid metabolizer
CYP3A5 intermediate metabolizer
CYP3A5 normal metabolizer
CYP3A5 poor metabolizer
Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer
Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer
Cytochrome P450 family 1 subfamily A member 2 normal metabolizer
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer
Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer
Cytochrome P450 family 2 subfamily C member 19 high intermediate metabolizer
Cytochrome P450 family 2 subfamily C member 19 low normal metabolizer
Cytochrome P450 family 2 subfamily C member 9 high intermediate metabolizer
Cytochrome P450 family 2 subfamily C member 9 low normal metabolizer
Cytochrome P450 family 2 subfamily C member 9 rapid metabolizer
Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer
Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer
Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer
Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer
Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer
Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer
Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer
Cytochrome P450 family 3 subfamily A member 4 normal metabolizer
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer
Cytochrome P450 family 3 subfamily A member 4 rapid metabolizer
Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metabolizer
Cytochrome P450 family 3 subfamily A member 5 high intermediate metabolizer
Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer
Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer
Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer
Decreased cell mitotic activity
DPYD intermediate metabolizer
DPYD normal metabolizer
DPYD poor metabolizer
Extra chromosomal inheritance
F>1< generation
F>2< generation
Finding related to molecular sequence data
Gene amplification1
Gene dosage compensation
Gene expression
Gene frequency
Gene mutation absent5
Gene mutation unassessable7
Gene re-arrangement7
Gene template
Genetic alleles
Genetic anomaly of leukocyte1
Genetic behavior
Genetic crossing over
Genetic dosage effect
Genetic enhancer element
Genetic independent segregation
Genetic inversion
Genetic linkage disequilibrium
Genetic linkage equilibrium
Genetic mosaic1
Genetic mutation7
Genetic non disjunction
Genetic polymorphism
Genetic position effect
Genetic predisposition1
Genetic recombination
Genetic replication
Genetic selection
Genetic sequence homology
Genetic susceptibility to cancer
Genetic susceptibility to genetic disorder1
Genetic transactivation
Genetic transcription
Genetic transduction
Genetic transfection
Genetic transformation
Genetic translation
Genetic variation
Homology region
Homozygote
Hybrid vigor
Hybridization
Increased cell mitotic activity
Lysogeny
Meiotic alteration
Microsatellite instability absent
Microsatellite instability not assessible
Microsatellite instability present
Mitotic alteration
Mitotic arrest
Molecular sequence data19
Multiple alleles
N-acetyltransferase 2 slow acetylator
Negative genetic finding13
Normal genetic findings
NUDT15 deficiency
NUDT15 intermediate metabolizer
NUDT15 normal metabolizer
NUDT15 poor metabolizer
NUDT15 possible intermediate metabolizer
Phenotype5
Point mutation
Positive genetic finding23
Post-transcriptional genetic ribonucleic acid processing
Proband
Proposita
Propositus
Regulatory sequence
Silent alleles
Sister chromatid exchange
SLCO1B1 decreased function
SLCO1B1 increased function
SLCO1B1 normal function
SLCO1B1 poor function
Synteny
TPMT intermediate metabolizer
TPMT normal metabolizer
TPMT poor metabolizer
UGT1A1 intermediate metabolizer
UGT1A1 normal metabolizer
UGT1A1 poor metabolizer
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation
Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation
Vitamin K epoxide reductase complex 1 high intermediate metabolizer
Vitamin K epoxide reductase complex 1 intermediate metabolizer
Vitamin K epoxide reductase complex 1 low normal metabolizer
Vitamin K epoxide reductase complex 1 normal metabolizer
Vitamin K epoxide reductase complex 1 poor metabolizer
Vitamin K epoxide reductase complex 1 rapid metabolizer
Vitamin K epoxide reductase complex 1 ultra-rapid metabolizer