Genetic finding (finding)
| Code | 106221001 |
|---|---|
| Semantic tag | finding |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
441742003Evaluation finding
finding
1351233008ABCG2 decreased function
finding
1351231005ABCG2 normal function
finding
1351232003ABCG2 poor function
finding
199738000Abnormal chromosomal and genetic finding on antenatal screening of mother
finding
60181007Allelic exclusion
finding
1168007Allotype
finding
124972006Alteration of genetic material
finding
709075008Aromatase excess syndrome
disorder
110441005Barr body absent, nuclear sex male
finding
110440006Barr body present, nuclear sex female
finding
110442003Barr body, more than one present per cell
finding
738765005CYP2B6 intermediate metabolizer
finding
738766006CYP2B6 normal metabolizer
finding
738764009CYP2B6 poor metabolizer
finding
772077005CYP2B6 rapid metaboliser
finding
772078000CYP2B6 ultra-rapid metaboliser
finding
738787001CYP2C19 intermediate metabolizer
finding
738788006CYP2C19 normal metabolizer
finding
738786005CYP2C19 poor metabolizer
finding
738789003CYP2C19 rapid metabolizer
finding
738790007CYP2C19 ultra-rapid metabolizer
finding
738546000CYP2C9 intermediate metabolizer
finding
738547009CYP2C9 normal metabolizer
finding
738545001CYP2C9 poor metabolizer
finding
738533005CYP2D6 intermediate metabolizer
finding
738534004CYP2D6 normal metabolizer
finding
738532000CYP2D6 poor metabolizer
finding
738535003CYP2D6 ultra-rapid metabolizer
finding
739063004CYP3A5 intermediate metabolizer
finding
739064005CYP3A5 normal metabolizer
finding
739062009CYP3A5 poor metabolizer
finding
34782005Chromosomal inheritance
finding
471282000Chromosome microdeletion
finding
842009Consanguinity
finding
787365005Cytochrome P450 family 1 subfamily A member 2 high intermediate metaboliser
finding
787364009Cytochrome P450 family 1 subfamily A member 2 intermediate metaboliser
finding
787366006Cytochrome P450 family 1 subfamily A member 2 low normal metaboliser
finding
787368007Cytochrome P450 family 1 subfamily A member 2 normal metaboliser
finding
787363003Cytochrome P450 family 1 subfamily A member 2 poor metaboliser
finding
787367002Cytochrome P450 family 1 subfamily A member 2 rapid metaboliser
finding
787369004Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metaboliser
finding
787358002Cytochrome P450 family 2 subfamily C member 19 high intermediate metaboliser
finding
787360000Cytochrome P450 family 2 subfamily C member 19 low normal metaboliser
finding
787194007Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser
finding
787154005Cytochrome P450 family 2 subfamily C member 9 low normal metaboliser
finding
787193001Cytochrome P450 family 2 subfamily C member 9 rapid metaboliser
finding
787192006Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metaboliser
finding
787434000Cytochrome P450 family 2 subfamily D member 6 high intermediate metaboliser
finding
787435004Cytochrome P450 family 2 subfamily D member 6 low normal metaboliser
finding
787433006Cytochrome P450 family 2 subfamily D member 6 rapid metaboliser
finding
787382007Cytochrome P450 family 3 subfamily A member 4 high intermediate metaboliser
finding
787381000Cytochrome P450 family 3 subfamily A member 4 intermediate metaboliser
finding
787383002Cytochrome P450 family 3 subfamily A member 4 low normal metaboliser
finding
787384008Cytochrome P450 family 3 subfamily A member 4 normal metaboliser
finding
787380004Cytochrome P450 family 3 subfamily A member 4 poor metaboliser
finding
787385009Cytochrome P450 family 3 subfamily A member 4 rapid metaboliser
finding
787386005Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metaboliser
finding
787404005Cytochrome P450 family 3 subfamily A member 5 high intermediate metaboliser
finding
787403004Cytochrome P450 family 3 subfamily A member 5 low normal metaboliser
finding
787405006Cytochrome P450 family 3 subfamily A member 5 rapid metaboliser
finding
787406007Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metaboliser
finding
1003612008Cytochrome P450 family 4 subfamily F member 2 poor metaboliser
finding
738543008DPYD intermediate metaboliser
finding
738544002DPYD normal metabolizer
finding
738542003DPYD poor metabolizer
finding
124981000Decreased cell mitotic activity
finding
112212006Extra chromosomal inheritance
finding
45212007F>1< generation
finding
32475006F>2< generation
finding
118205009Finding related to molecular sequence data
finding
12645001Gene amplification
finding
14915001Gene dosage compensation
finding
89551006Gene expression
finding
57196006Gene frequency
finding
43245005Gene re-arrangement
finding
85599004Gene template
finding
9109004Genetic alleles
finding
47986005Genetic anomaly of leucocyte
disorder
7599007Genetic behaviour
finding
35147005Genetic crossing over
finding
38789009Genetic dosage effect
finding
82283002Genetic enhancer element
finding
412731001Genetic finding detected
finding
412730000Genetic finding not detected
finding
56879003Genetic independent segregation
finding
60844005Genetic inversion
finding
40976007Genetic linkage disequilibrium
finding
13300001Genetic linkage equilibrium
finding
17523003Genetic mosaic
finding
55446002Genetic mutation
finding
25363001Genetic non disjunction
finding
50334000Genetic polymorphism
finding
39751009Genetic position effect
finding
47708004Genetic predisposition
finding
816009Genetic recombination
finding
54236009Genetic replication
finding
50606000Genetic selection
finding
37819008Genetic sequence homology
finding
52816004Genetic transactivation
finding
10589004Genetic transcription
finding
2351004Genetic transduction
finding
74428002Genetic transfection
finding
63693001Genetic transformation
finding
112211004Genetic translation
finding
64195000Genetic variation
finding
73804003Homology region
finding
22061001Homozygote
finding
736698001Human leukocyte antigen B27 not detected
finding
45427005Hybrid vigor
finding
81919004Hybridisation
finding
124980004Increased cell mitotic activity
finding
61828008Lysogeny
finding
124988006Meiotic alteration
finding
124979002Mitotic alteration
finding
124982007Mitotic arrest
finding
41482005Molecular sequence data
finding
43376001Multiple alleles
finding
792857006N-acetyltransferase 2 slow acetylator
finding
781386002NUDT15 deficiency
disorder
772108003NUDT15 intermediate metaboliser
finding
772107008NUDT15 normal metaboliser
finding
772110001NUDT15 poor metaboliser
finding
772109006NUDT15 possible intermediate metaboliser
finding
312969002Normal genetic findings
finding
8116006Phenotype
finding
471281007Point mutation
finding
1156628004Post-transcriptional genetic ribonucleic acid processing
finding
85900004Proband
finding
34216002Proposita
finding
64245008Propositus
finding
19482002Regulatory sequence
finding
738761001SLCO1B1 decreased function
finding
738763003SLCO1B1 increased function
finding
738762008SLCO1B1 normal function
finding
738760000SLCO1B1 poor function
finding
2308003Silent alleles
finding
31091003Sister chromatid exchange
finding
85938000Synteny
finding
738540006TPMT intermediate metabolizer
finding
738541005TPMT normal metabolizer
finding
738539009TPMT poor metabolizer
finding
689861000119100Triplicated alpha globin gene
finding
738537006UGT1A1 intermediate metabolizer
finding
738538001UGT1A1 normal metabolizer
finding
738536002UGT1A1 poor metabolizer
finding
1004155003Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation
finding
1142134000Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation
finding
787130000Vitamin K epoxide reductase complex 1 high intermediate metaboliser
finding
787129005Vitamin K epoxide reductase complex 1 intermediate metaboliser
finding
787132008Vitamin K epoxide reductase complex 1 low normal metaboliser
finding
787131001Vitamin K epoxide reductase complex 1 normal metaboliser
finding
787128002Vitamin K epoxide reductase complex 1 poor metaboliser
finding
787133003Vitamin K epoxide reductase complex 1 rapid metaboliser
finding
787134009Vitamin K epoxide reductase complex 1 ultra-rapid metaboliser
finding