NHS North West Genomics
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ValueSet: Genomic Finding

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFinding Version: 2.1.4
Draft as of 2026-07-24 Computable Name: GenomicFinding

Genomic Finding

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include codes fromhttp://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 106221001 (Genetic finding)

 

Expansion

Expansion from tx.fhir.org based on SNOMED CT United Kingdom edition 12-Apr 2023

This value set contains 426 concepts

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  106221001Genetic finding
http://snomed.info/sct  816009Genetic recombination
http://snomed.info/sct  842009Consanguinity
http://snomed.info/sct  1168007Allotype
http://snomed.info/sct  1318006Post-translational genetic protein processing
http://snomed.info/sct  2308003Silent alleles
http://snomed.info/sct  2351004Genetic transduction
http://snomed.info/sct  3067005Blood group antigen C^u^
http://snomed.info/sct  6800004Blood group antigen E^u^
http://snomed.info/sct  7599007Genetic behavior
http://snomed.info/sct  8116006Phenotype
http://snomed.info/sct  9109004Genetic alleles
http://snomed.info/sct  10589004Genetic transcription
http://snomed.info/sct  12645001Gene amplification
http://snomed.info/sct  13300001Genetic linkage equilibrium
http://snomed.info/sct  13333006Genetic terminator region
http://snomed.info/sct  14915001Gene dosage compensation
http://snomed.info/sct  16345006Blood group antigen G^u^
http://snomed.info/sct  17523003Genetic mosaic
http://snomed.info/sct  19482002Regulatory sequence
http://snomed.info/sct  22061001Homozygote
http://snomed.info/sct  22986007Transcriptional RNA splicing
http://snomed.info/sct  24403008P-null phenotype
http://snomed.info/sct  25132006Blood group N>2<
http://snomed.info/sct  25194005Abnormal nucleotide base sequence
http://snomed.info/sct  25363001Genetic non disjunction
http://snomed.info/sct  25384006Blood group S>2<
http://snomed.info/sct  25900007Gene re-arrangement, B lymphocyte, heavy chain
http://snomed.info/sct  26608005Carbohydrate sequence
http://snomed.info/sct  28820008Amino acid sequence
http://snomed.info/sct  29286002Abnormal nucleic acid sequence
http://snomed.info/sct  29549004RRNA operon
http://snomed.info/sct  31091003Sister chromatid exchange
http://snomed.info/sct  32475006F>2< generation
http://snomed.info/sct  34216002Proposita
http://snomed.info/sct  34782005Chromosomal inheritance
http://snomed.info/sct  34850003Blood group antigen Fy^x^
http://snomed.info/sct  35147005Genetic crossing over
http://snomed.info/sct  37819008Genetic sequence homology
http://snomed.info/sct  38194003Blood group antigen e^i^
http://snomed.info/sct  38789009Genetic dosage effect
http://snomed.info/sct  39751009Genetic position effect
http://snomed.info/sct  40976007Genetic linkage disequilibrium
http://snomed.info/sct  41482005Molecular sequence data
http://snomed.info/sct  43245005Gene re-arrangement
http://snomed.info/sct  43376001Multiple alleles
http://snomed.info/sct  45212007F>1< generation
http://snomed.info/sct  45427005Hybrid vigor
http://snomed.info/sct  45597001Blood group A>3<B
http://snomed.info/sct  45803000Genetic promotor region
http://snomed.info/sct  47708004Genetic predisposition
http://snomed.info/sct  47986005Genetic anomaly of leukocyte
http://snomed.info/sct  50334000Genetic polymorphism
http://snomed.info/sct  50606000Genetic selection
http://snomed.info/sct  51512005Nucleic acid repetitive sequence
http://snomed.info/sct  52816004Genetic transactivation
http://snomed.info/sct  54236009Genetic replication
http://snomed.info/sct  54828006Nucleotide base sequence
http://snomed.info/sct  55446002Genetic mutation
http://snomed.info/sct  56879003Genetic independent segregation
http://snomed.info/sct  57196006Gene frequency
http://snomed.info/sct  57652005Blood group antigen V^u^
http://snomed.info/sct  58460004Blood group O
http://snomed.info/sct  60181007Allelic exclusion
http://snomed.info/sct  60844005Genetic inversion
http://snomed.info/sct  61668005Gene re-arrangement, gamma chain, T cell antigen receptor
http://snomed.info/sct  61828008Lysogeny
http://snomed.info/sct  63693001Genetic transformation
http://snomed.info/sct  64195000Genetic variation
http://snomed.info/sct  64245008Propositus
http://snomed.info/sct  64553001Secretor gene absent (se)
http://snomed.info/sct  65087006Blood group M>2<
http://snomed.info/sct  65247007Gene re-arrangement, T lymphocyte
http://snomed.info/sct  69604007Abnormal amino acid sequence
http://snomed.info/sct  69868005Genetic operator region
http://snomed.info/sct  72633008Base sequence
http://snomed.info/sct  72644000Gene re-arrangement, alpha chain, T cell antigen receptor
http://snomed.info/sct  73804003Homology region
http://snomed.info/sct  74354009Nucleic acid sequence homology
http://snomed.info/sct  74428002Genetic transfection
http://snomed.info/sct  74836001Secretor gene present (Se)
http://snomed.info/sct  78473004Gene re-arrangement, beta chain, T cell antigen receptor
http://snomed.info/sct  79248008Blood group A>1<B
http://snomed.info/sct  79667004Abnormal macromolecular sequence
http://snomed.info/sct  81835007Blood group antigen c^v^
http://snomed.info/sct  81919004Hybridization
http://snomed.info/sct  82283002Genetic enhancer element
http://snomed.info/sct  83579008Mixed gonadal dysgenesis
http://snomed.info/sct  85559002Pelger-Huët anomaly
http://snomed.info/sct  85599004Gene template
http://snomed.info/sct  85900004Proband
http://snomed.info/sct  85938000Synteny
http://snomed.info/sct  86457007Nucleic acid regulatory sequence
http://snomed.info/sct  87682005Gene re-arrangement, B lymphocyte
http://snomed.info/sct  88942003Blood group A>2<B
http://snomed.info/sct  89017001Gene re-arrangement, B lymphocyte, light chain
http://snomed.info/sct  89109006Blood group antigen D^u^
http://snomed.info/sct  89551006Gene expression
http://snomed.info/sct  89744004Abnormal carbohydrate sequence
http://snomed.info/sct  103225004Blood group P>2<
http://snomed.info/sct  110440006Barr body present, nuclear sex female
http://snomed.info/sct  110441005Barr body absent, nuclear sex male
http://snomed.info/sct  110442003Barr body, more than one present per cell
http://snomed.info/sct  112143006ABO group phenotype
http://snomed.info/sct  112144000Blood group A
http://snomed.info/sct  112149005Blood group B
http://snomed.info/sct  112211004Genetic translation
http://snomed.info/sct  112212006Extra chromosomal inheritance
http://snomed.info/sct  115665000Atopic state
http://snomed.info/sct  115730009Hh blood group phenotype
http://snomed.info/sct  115731008Blood group O>h< Bombay
http://snomed.info/sct  115732001Blood group O>h< Bombay Indian type
http://snomed.info/sct  115734000Blood group O>h< Bombay Reunion type
http://snomed.info/sct  115735004Blood group Para-Bombay
http://snomed.info/sct  115736003Blood group A>h<
http://snomed.info/sct  115737007Blood group B>h<
http://snomed.info/sct  115748000Lewis blood group phenotype
http://snomed.info/sct  115749008Le(a-b-) phenotype
http://snomed.info/sct  115750008I blood group phenotype
http://snomed.info/sct  115751007i>cord< phenotype
http://snomed.info/sct  115752000i>adult< phenotype
http://snomed.info/sct  115753005i>1< phenotype
http://snomed.info/sct  115754004i>2< phenotype
http://snomed.info/sct  115755003I phenotype
http://snomed.info/sct  115756002I>int< phenotype
http://snomed.info/sct  115758001Rhesus blood group phenotype
http://snomed.info/sct  115759009Rh>null< phenotype
http://snomed.info/sct  115760004X^o^rX^o^r blood group phenotype
http://snomed.info/sct  115761000Rr^-^ blood group phenotype
http://snomed.info/sct  115762007Rh>mod< blood group phenotype
http://snomed.info/sct  115763002Trans weak D phenotype
http://snomed.info/sct  115764008Inherited weak D phenotype
http://snomed.info/sct  115794002P blood group phenotype
http://snomed.info/sct  115795001P>1< phenotype
http://snomed.info/sct  115796000P>1<^k^ phenotype
http://snomed.info/sct  115797009P>2<^k^ phenotype
http://snomed.info/sct  115798004Landsteiner-Wiener phenotype
http://snomed.info/sct  115799007LW(a-b-) phenotype
http://snomed.info/sct  115800006MNS blood group phenotype
http://snomed.info/sct  115801005M^k^M^k^ phenotype
http://snomed.info/sct  115802003U- phenotype
http://snomed.info/sct  115803008En(a-) phenotype
http://snomed.info/sct  115804002En(a-)(Fin) phenotype
http://snomed.info/sct  115805001En(a-)(UK) phenotype
http://snomed.info/sct  115821006Lutheran blood group phenotype
http://snomed.info/sct  115822004Lutheran negative phenotype
http://snomed.info/sct  115823009LuLu phenotype
http://snomed.info/sct  115824003In(Lu) phenotype
http://snomed.info/sct  115825002XS2 phenotype
http://snomed.info/sct  115826001Acquired Lu(a-b-) phenotype
http://snomed.info/sct  115827005Lutheran weak phenotype
http://snomed.info/sct  115830003Kidd blood group phenotype
http://snomed.info/sct  115831004Jk(a-b-) phenotype
http://snomed.info/sct  115832006JkJk phenotype
http://snomed.info/sct  115833001In(Jk) phenotype
http://snomed.info/sct  115834007Duffy blood group phenotype
http://snomed.info/sct  115835008Fy(a-b-) phenotype
http://snomed.info/sct  115837000Kell blood group phenotype
http://snomed.info/sct  115838005Kell>null< phenotype
http://snomed.info/sct  115839002Kell>mod< phenotype
http://snomed.info/sct  115844009Kx blood group phenotype
http://snomed.info/sct  115845005McLeod phenotype
http://snomed.info/sct  115851000Colton blood group phenotype
http://snomed.info/sct  115852007Co(a-b-) phenotype
http://snomed.info/sct  115853002Gerbich blood group phenotype
http://snomed.info/sct  115854008Gerbich positive phenotype
http://snomed.info/sct  115855009Gerbich negative phenotype
http://snomed.info/sct  115860008Cromer blood group phenotype
http://snomed.info/sct  115861007Inab phenotype
http://snomed.info/sct  115866002Chido-Rodgers blood group phenotype
http://snomed.info/sct  115867006Ch-Rg- phenotype
http://snomed.info/sct  115940004Blood group phenotype
http://snomed.info/sct  118205009Finding related to molecular sequence data
http://snomed.info/sct  124972006Alteration of genetic material
http://snomed.info/sct  124975008Somatic mutation
http://snomed.info/sct  124976009Temperature-sensitive mutation
http://snomed.info/sct  124977000Nucleotide base deletion
http://snomed.info/sct  124979002Mitotic alteration
http://snomed.info/sct  124980004Increased cell mitotic activity
http://snomed.info/sct  124981000Decreased cell mitotic activity
http://snomed.info/sct  124982007Mitotic arrest
http://snomed.info/sct  124988006Meiotic alteration
http://snomed.info/sct  131149001Blood group A>1<
http://snomed.info/sct  131150001Blood group A>2<
http://snomed.info/sct  131151002Blood group A>3<
http://snomed.info/sct  131152009Blood group A>x<
http://snomed.info/sct  131153004Blood group A>m<
http://snomed.info/sct  131154005Blood group A>y<
http://snomed.info/sct  131155006Blood group A>end<
http://snomed.info/sct  131156007Blood group A>el<
http://snomed.info/sct  131157003Blood group antigen A variant
http://snomed.info/sct  131158008B subgroup
http://snomed.info/sct  131159000Blood group B>3<
http://snomed.info/sct  131160005Blood group B>m<
http://snomed.info/sct  131161009Blood group B>el<
http://snomed.info/sct  131162002Blood group B>w<
http://snomed.info/sct  131163007Blood group B>x<
http://snomed.info/sct  131164001Blood group A>m<^h^
http://snomed.info/sct  131165000Blood group B>m<^h^
http://snomed.info/sct  131166004Blood group O>m<^h^
http://snomed.info/sct  131167008Blood group O>Hm<
http://snomed.info/sct  131168003Blood group O>Hm<^A^
http://snomed.info/sct  131169006Blood group O>Hm<^B^
http://snomed.info/sct  131178000Gerbich type
http://snomed.info/sct  131179008Yus type
http://snomed.info/sct  131180006Melasian type
http://snomed.info/sct  131181005Leach type
http://snomed.info/sct  165743006Group AB
http://snomed.info/sct  165746003Rh negative
http://snomed.info/sct  165747007Rhesus positive
http://snomed.info/sct  199738000Abnormal chromosomal and genetic finding on antenatal screening of mother
http://snomed.info/sct  250376006Rh negative Du positive
http://snomed.info/sct  250685002Alpha-1-antitrypsin phenotype PiMM
http://snomed.info/sct  250686001Alpha-1-antitrypsin phenotype PiZZ
http://snomed.info/sct  250687005Alpha-1-antitrypsin phenotype PiSS
http://snomed.info/sct  250688000Alpha-1-antitrypsin phenotype PiSZ
http://snomed.info/sct  250689008Alpha-1-antitrypsin phenotype PiMZ
http://snomed.info/sct  250690004Alpha-1-antitrypsin phenotype PiMS
http://snomed.info/sct  250691000Alpha-1-antitrypsin phenotype null
http://snomed.info/sct  250693002Apolipoprotein E phenotype E2:2
http://snomed.info/sct  250694008Apolipoprotein E phenotype E3:3
http://snomed.info/sct  250695009Apolipoprotein E phenotype E4:4
http://snomed.info/sct  250696005Apolipoprotein E phenotype E2:3
http://snomed.info/sct  250697001Apolipoprotein E phenotype E2:4
http://snomed.info/sct  250698006Apolipoprotein E phenotype E3:4
http://snomed.info/sct  264771009Acromegaloid phenotype
http://snomed.info/sct  278147001Blood group O Rh(D) positive
http://snomed.info/sct  278148006Group O neg
http://snomed.info/sct  278149003Blood group A Rh(D) positive
http://snomed.info/sct  278150003Group B pos
http://snomed.info/sct  278151004Blood group AB Rh(D) positive
http://snomed.info/sct  278152006Group A neg
http://snomed.info/sct  278153001Blood group B Rh(D) negative
http://snomed.info/sct  278154007Group AB neg
http://snomed.info/sct  302960008Mosaicism 45, X; 46, XX
http://snomed.info/sct  312969002Normal genetic findings
http://snomed.info/sct  325753009Frame-shift mutation
http://snomed.info/sct  326724004Suppressor mutation
http://snomed.info/sct  327671006Nonsense mutation
http://snomed.info/sct  365832006Alpha-1-antitrypsin phenotype - finding
http://snomed.info/sct  365833001Apolipoprotein E phenotype
http://snomed.info/sct  405847005Fy(a+b-) phenotype
http://snomed.info/sct  405848000Fy(a-b+) phenotype
http://snomed.info/sct  405849008Fy(a+b+) phenotype
http://snomed.info/sct  405850008Fy(a-) phenotype
http://snomed.info/sct  405851007Fy(a+) phenotype
http://snomed.info/sct  405852000Fy(b-) phenotype
http://snomed.info/sct  405853005Fy(b+) phenotype
http://snomed.info/sct  405854004Jk(a+) phenotype
http://snomed.info/sct  405855003Jk(a+b+) phenotype
http://snomed.info/sct  405856002Jk(a+b-) phenotype
http://snomed.info/sct  405857006Jk(a-) phenotype
http://snomed.info/sct  405858001Jk(a-b+) phenotype
http://snomed.info/sct  405859009Jk(b+) phenotype
http://snomed.info/sct  405860004Jk(b-) phenotype
http://snomed.info/sct  405861000Le(a+b-) phenotype
http://snomed.info/sct  405862007Le(a-b+) phenotype
http://snomed.info/sct  405863002Le(a-) phenotype
http://snomed.info/sct  405864008Le(a+) phenotype
http://snomed.info/sct  405865009Le(b+) phenotype
http://snomed.info/sct  405866005Le(b-) phenotype
http://snomed.info/sct  405868006Lu(a-b+) phenotype
http://snomed.info/sct  405869003Lu(a+b+) phenotype
http://snomed.info/sct  405870002Lu(a+b-) phenotype
http://snomed.info/sct  405871003Lu(a-) phenotype
http://snomed.info/sct  405872005Lu(a+) phenotype
http://snomed.info/sct  405873000Lu(b+) phenotype
http://snomed.info/sct  405874006Lu(b-) phenotype
http://snomed.info/sct  405875007M+ phenotype
http://snomed.info/sct  405876008M- phenotype
http://snomed.info/sct  405877004Le(a+b+) phenotype
http://snomed.info/sct  405878009N+ phenotype
http://snomed.info/sct  405879001N- phenotype
http://snomed.info/sct  405880003M-N- phenotype
http://snomed.info/sct  405881004M+N- phenotype
http://snomed.info/sct  405882006M+N+ phenotype
http://snomed.info/sct  405883001M-N+ phenotype
http://snomed.info/sct  405884007S- phenotype
http://snomed.info/sct  405885008S+ phenotype
http://snomed.info/sct  405886009s- phenotype
http://snomed.info/sct  405887000s+ phenotype
http://snomed.info/sct  405888005S+s+ phenotype
http://snomed.info/sct  405889002S-s+ phenotype
http://snomed.info/sct  405890006S-s- phenotype
http://snomed.info/sct  405891005S+s- phenotype
http://snomed.info/sct  405892003K+ phenotype
http://snomed.info/sct  405893008K- phenotype
http://snomed.info/sct  405894002k- phenotype
http://snomed.info/sct  405895001k+ phenotype
http://snomed.info/sct  405896000K+k+ phenotype
http://snomed.info/sct  405897009K+k- phenotype
http://snomed.info/sct  405898004K-k- phenotype
http://snomed.info/sct  405899007K-k+ phenotype
http://snomed.info/sct  405900002P1+ phenotype
http://snomed.info/sct  405901003P1- phenotype
http://snomed.info/sct  412730000Negative genetic finding
http://snomed.info/sct  412731001Positive genetic finding
http://snomed.info/sct  412734009BRCA1 gene mutation positive
http://snomed.info/sct  412736006BRCA1 gene mutation negative
http://snomed.info/sct  412738007BRCA2 gene mutation positive
http://snomed.info/sct  412739004BRCA2 gene mutation negative
http://snomed.info/sct  413596002Atherogenic lipoprotein phenotype
http://snomed.info/sct  430934002Mitochondrial mutation
http://snomed.info/sct  445180002Breast cancer genetic marker of susceptibility negative
http://snomed.info/sct  445333001Breast cancer genetic marker of susceptibility positive
http://snomed.info/sct  471281007Point mutation
http://snomed.info/sct  471282000Chromosome microdeletion
http://snomed.info/sct  702781009Mitochondrial 1555 A to G mutation negative
http://snomed.info/sct  702782002Mitochondrial 1555 A to G mutation positive
http://snomed.info/sct  702783007Heterozygous protocadherin 19 gene mutation positive
http://snomed.info/sct  705105000Human epidermal growth factor 2 gene amplification negative
http://snomed.info/sct  709075008Aromatase excess syndrome
http://snomed.info/sct  710010005Mosaic Turner syndrome
http://snomed.info/sct  710019006Mosaicism 45, X or other cell line with abnormal sex chromosome
http://snomed.info/sct  719007008Mutation of p53 gene
http://snomed.info/sct  733119003Rhc negative
http://snomed.info/sct  733120009Rhc positive
http://snomed.info/sct  738288005HLA-B*57:01 positive
http://snomed.info/sct  738289002Human leukocyte antigen B*57:01 negative
http://snomed.info/sct  738532000Cytochrome P450 family 2 subfamily D member 6 poor metabolizer
http://snomed.info/sct  738533005Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer
http://snomed.info/sct  738534004Cytochrome P450 family 2 subfamily D member 6 normal metabolizer
http://snomed.info/sct  738535003Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer
http://snomed.info/sct  738536002Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metabolizer
http://snomed.info/sct  738537006Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer
http://snomed.info/sct  738538001UGT1A1 normal metabolizer
http://snomed.info/sct  738539009TPMT poor metabolizer
http://snomed.info/sct  738540006TPMT intermediate metabolizer
http://snomed.info/sct  738541005TPMT normal metabolizer
http://snomed.info/sct  738542003Dihydropyrimidine dehydrogenase poor metabolizer
http://snomed.info/sct  738543008DPYD intermediate metabolizer
http://snomed.info/sct  738544002DPYD normal metabolizer
http://snomed.info/sct  738545001CYP2C9 poor metabolizer
http://snomed.info/sct  738546000CYP2C9 intermediate metabolizer
http://snomed.info/sct  738547009CYP2C9 normal metabolizer
http://snomed.info/sct  738760000SLCO1B1 poor function
http://snomed.info/sct  738761001SLCO1B1 decreased function
http://snomed.info/sct  738762008Solute carrier organic anion transporter family member 1B1 normal function
http://snomed.info/sct  738763003Solute carrier organic anion transporter family member 1B1 increased function
http://snomed.info/sct  738764009CYP2B6 poor metabolizer
http://snomed.info/sct  738765005Cytochrome P450 family 2 subfamily B member 6 intermediate metabolizer
http://snomed.info/sct  738766006CYP2B6 normal metabolizer
http://snomed.info/sct  738782007Human leukocyte antigen A*31:01 negative
http://snomed.info/sct  738783002HLA-A*31:01 positive
http://snomed.info/sct  738784008Human leukocyte antigen B*15:02 negative
http://snomed.info/sct  738785009Human leukocyte antigen B*15:02 positive
http://snomed.info/sct  738786005CYP2C19 poor metabolizer
http://snomed.info/sct  738787001Cytochrome P450 family 2 subfamily C member 19 intermediate metabolizer
http://snomed.info/sct  738788006CYP2C19 normal metabolizer
http://snomed.info/sct  738789003Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer
http://snomed.info/sct  738790007CYP2C19 ultra-rapid metabolizer
http://snomed.info/sct  739062009Cytochrome P450 family 3 subfamily A member 5 poor metabolizer
http://snomed.info/sct  739063004Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer
http://snomed.info/sct  739064005Cytochrome P450 family 3 subfamily A member 5 normal metabolizer
http://snomed.info/sct  739071000HLA-B*58:01 negative
http://snomed.info/sct  739072007Human leukocyte antigen B*58:01 positive
http://snomed.info/sct  772077005Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer
http://snomed.info/sct  772078000Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer
http://snomed.info/sct  772107008NUDT15 normal metabolizer
http://snomed.info/sct  772108003NUDT15 intermediate metabolizer
http://snomed.info/sct  772109006NUDT15 possible intermediate metabolizer
http://snomed.info/sct  772110001Nudix hydrolase 15 poor metabolizer
http://snomed.info/sct  781386002Deficiency of nudix hydrolase 15
http://snomed.info/sct  787128002VKORC1 (vitamin K epoxide reductase complex 1) poor metabolizer
http://snomed.info/sct  787129005VKORC1 intermediate metaboliser
http://snomed.info/sct  787130000Vitamin K epoxide reductase complex 1 high intermediate metabolizer
http://snomed.info/sct  787131001VKORC1 normal metabolizer
http://snomed.info/sct  787132008Vitamin K epoxide reductase complex 1 low normal metaboliser
http://snomed.info/sct  787133003VKORC1 rapid metabolizer
http://snomed.info/sct  787134009VKORC1 (vitamin K epoxide reductase complex 1) ultra-rapid metaboliser
http://snomed.info/sct  787154005CYP2C9 (cytochrome P450 family 2 subfamily C member 9) low normal metaboliser
http://snomed.info/sct  787192006CYP2C9 ultra-rapid metabolizer
http://snomed.info/sct  787193001CYP2C9 rapid metabolizer
http://snomed.info/sct  787194007Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser
http://snomed.info/sct  787358002CYP2C19 high intermediate metaboliser
http://snomed.info/sct  787360000CYP2C19 low normal metaboliser
http://snomed.info/sct  787363003CYP1A2 (cytochrome P450 family 1 subfamily A member 2) poor metabolizer
http://snomed.info/sct  787364009CYP1A2 intermediate metabolizer
http://snomed.info/sct  787365005CYP1A2 (cytochrome P450 family 1 subfamily A member 2) high intermediate metabolizer
http://snomed.info/sct  787366006CYP1A2 low normal metaboliser
http://snomed.info/sct  787367002Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer
http://snomed.info/sct  787368007CYP1A2 (cytochrome P450 family 1 subfamily A member 2) normal metabolizer
http://snomed.info/sct  787369004Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer
http://snomed.info/sct  787380004CYP3A4 poor metaboliser
http://snomed.info/sct  787381000Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer
http://snomed.info/sct  787382007Cytochrome P450 family 3 subfamily A member 4 high intermediate metaboliser
http://snomed.info/sct  787383002Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer
http://snomed.info/sct  787384008CYP3A4 normal metabolizer
http://snomed.info/sct  787385009CYP3A4 (cytochrome P450 family 3 subfamily A member 4) rapid metaboliser
http://snomed.info/sct  787386005CYP3A4 (cytochrome P450 family 3 subfamily A member 4) ultra-rapid metabolizer
http://snomed.info/sct  787403004CYP3A5 low normal metaboliser
http://snomed.info/sct  787404005CYP3A5 (cytochrome P450 family 3 subfamily A member 5) high intermediate metabolizer
http://snomed.info/sct  787405006CYP3A5 (cytochrome P450 family 3 subfamily A member 5) rapid metaboliser
http://snomed.info/sct  787406007CYP3A5 ultra-rapid metabolizer
http://snomed.info/sct  787433006Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer
http://snomed.info/sct  787434000Cytochrome P450 family 2 subfamily D member 6 high intermediate metaboliser
http://snomed.info/sct  787435004CYP2D6 (cytochrome P450 family 2 subfamily D member 6) low normal metabolizer
http://snomed.info/sct  792857006NAT2 (N-acetyltransferase 2) slow acetylator
http://snomed.info/sct  890189007Malignant hyperthermia genetic susceptibility
http://snomed.info/sct  1003612008CYP4F2 poor metaboliser
http://snomed.info/sct  1003641004Human leukocyte antigen DQB1*02:02 positive
http://snomed.info/sct  1004155003Uncertain genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation
http://snomed.info/sct  1010400009Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive
http://snomed.info/sct  1141749000Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive
http://snomed.info/sct  1142134000Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
http://snomed.info/sct  1144910008Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer
http://snomed.info/sct  1144913005Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer
http://snomed.info/sct  1144930007Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer
http://snomed.info/sct  1156628004Post-transcriptional genetic RNA (ribonucleic acid) processing
http://snomed.info/sct  1162602001Human epidermal growth factor receptor 2 gene amplification detected
http://snomed.info/sct  1179760003Tumor mutational burden
http://snomed.info/sct  1217473009High tumour mutational burden
http://snomed.info/sct  1217474003Tumor mutational burden - low
http://snomed.info/sct  1237618009SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome
http://snomed.info/sct  1254911003Hypermelanotic pigmentary mosaicism
http://snomed.info/sct  71951000119107Genetic susceptibility to genetic disorder
http://snomed.info/sct  85121000119109Genetic susceptibility to cancer
http://snomed.info/sct  204871000237101Apolipoprotein B gene mutation positive
http://snomed.info/sct  204881000237104Proprotein convertase subtilisin/kexin type 9 gene mutation positive
http://snomed.info/sct  204891000237102Low density lipoprotein receptor gene mutation positive
http://snomed.info/sct  204901000237101Apolipoprotein E gene mutation positive
http://snomed.info/sct  248211000000106Human epidermal growth factor receptor 2 gene positive
http://snomed.info/sct  248221000000100Human epidermal growth factor receptor 2 gene negative
http://snomed.info/sct  302841000000105Non-significant homozygote
http://snomed.info/sct  912201000000104FBN1 gene mutation positive
http://snomed.info/sct  1099611000119109Hereditary non-polyposis colon cancer gene mutation positive

Description of the above table(s).