NHS North West Genomics
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ValueSet: Genomic Finding

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFinding Version: 0.0.8
Draft as of 2025-11-05 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 expansion 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 (finding)
http://snomed.info/sct  405848000Fy(a-b+) phenotype (finding)
http://snomed.info/sct  405849008Fy(a+b+) phenotype (finding)
http://snomed.info/sct  405850008Fy(a-) phenotype (finding)
http://snomed.info/sct  405851007Fy(a+) phenotype (finding)
http://snomed.info/sct  405852000Fy(b-) phenotype (finding)
http://snomed.info/sct  405853005Fy(b+) phenotype (finding)
http://snomed.info/sct  405854004Jk(a+) phenotype (finding)
http://snomed.info/sct  405855003Jk(a+b+) phenotype (finding)
http://snomed.info/sct  405856002Jk(a+b-) phenotype (finding)
http://snomed.info/sct  405857006Jk(a-) phenotype (finding)
http://snomed.info/sct  405858001Jk(a-b+) phenotype (finding)
http://snomed.info/sct  405859009Jk(b+) phenotype (finding)
http://snomed.info/sct  405860004Jk(b-) phenotype (finding)
http://snomed.info/sct  405861000Le(a+b-) phenotype (finding)
http://snomed.info/sct  405862007Le(a-b+) phenotype (finding)
http://snomed.info/sct  405863002Le(a-) phenotype (finding)
http://snomed.info/sct  405864008Le(a+) phenotype (finding)
http://snomed.info/sct  405865009Le(b+) phenotype (finding)
http://snomed.info/sct  405866005Le(b-) phenotype (finding)
http://snomed.info/sct  405868006Lu(a-b+) phenotype (finding)
http://snomed.info/sct  405869003Lu(a+b+) phenotype (finding)
http://snomed.info/sct  405870002Lu(a+b-) phenotype (finding)
http://snomed.info/sct  405871003Lu(a-) phenotype (finding)
http://snomed.info/sct  405872005Lu(a+) phenotype (finding)
http://snomed.info/sct  405873000Lu(b+) phenotype (finding)
http://snomed.info/sct  405874006Lu(b-) phenotype (finding)
http://snomed.info/sct  405875007M+ phenotype (finding)
http://snomed.info/sct  405876008M- phenotype (finding)
http://snomed.info/sct  405877004Le(a+b+) phenotype (finding)
http://snomed.info/sct  405878009N+ phenotype (finding)
http://snomed.info/sct  405879001N- phenotype (finding)
http://snomed.info/sct  405880003M-N- phenotype (finding)
http://snomed.info/sct  405881004M+N- phenotype (finding)
http://snomed.info/sct  405882006M+N+ phenotype (finding)
http://snomed.info/sct  405883001M-N+ phenotype (finding)
http://snomed.info/sct  405884007S- phenotype (finding)
http://snomed.info/sct  405885008S+ phenotype (finding)
http://snomed.info/sct  405886009s- phenotype (finding)
http://snomed.info/sct  405887000s+ phenotype (finding)
http://snomed.info/sct  405888005S+s+ phenotype (finding)
http://snomed.info/sct  405889002S-s+ phenotype (finding)
http://snomed.info/sct  405890006S-s- phenotype (finding)
http://snomed.info/sct  405891005S+s- phenotype (finding)
http://snomed.info/sct  405892003K+ phenotype (finding)
http://snomed.info/sct  405893008K- phenotype (finding)
http://snomed.info/sct  405894002k- phenotype (finding)
http://snomed.info/sct  405895001k+ phenotype (finding)
http://snomed.info/sct  405896000K+k+ phenotype (finding)
http://snomed.info/sct  405897009K+k- phenotype (finding)
http://snomed.info/sct  405898004K-k- phenotype (finding)
http://snomed.info/sct  405899007K-k+ phenotype (finding)
http://snomed.info/sct  405900002P1+ phenotype (finding)
http://snomed.info/sct  405901003P1- phenotype (finding)
http://snomed.info/sct  412730000Negative genetic finding (finding)
http://snomed.info/sct  412731001Positive genetic finding (finding)
http://snomed.info/sct  412734009BRCA1 gene mutation positive (finding)
http://snomed.info/sct  412736006BRCA1 gene mutation negative (finding)
http://snomed.info/sct  412738007BRCA2 gene mutation positive (finding)
http://snomed.info/sct  412739004BRCA2 gene mutation negative (finding)
http://snomed.info/sct  413596002Atherogenic lipoprotein phenotype (finding)
http://snomed.info/sct  430934002Mitochondrial mutation (finding)
http://snomed.info/sct  445180002Breast cancer genetic marker of susceptibility negative (finding)
http://snomed.info/sct  445333001Breast cancer genetic marker of susceptibility positive (finding)
http://snomed.info/sct  471281007Point mutation (finding)
http://snomed.info/sct  471282000Chromosome microdeletion (finding)
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 (finding)
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 (disorder)
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 (finding)
http://snomed.info/sct  733120009Rhc positive (finding)
http://snomed.info/sct  738288005HLA-B*57:01 positive
http://snomed.info/sct  738289002Human leukocyte antigen B*57:01 negative (finding)
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 (finding)
http://snomed.info/sct  738534004Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding)
http://snomed.info/sct  738535003Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding)
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  738539009Thiopurine S-methyltransferase poor metabolizer (finding)
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  738544002Dihydropyrimidine dehydrogenase normal metabolizer (finding)
http://snomed.info/sct  738545001Cytochrome P450 family 2 subfamily C member 9 poor metabolizer (finding)
http://snomed.info/sct  738546000CYP2C9 intermediate metabolizer
http://snomed.info/sct  738547009Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding)
http://snomed.info/sct  738760000Solute carrier organic anion transporter family member 1B1 poor function (finding)
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 (finding)
http://snomed.info/sct  738766006Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding)
http://snomed.info/sct  738782007Human leukocyte antigen A*31:01 negative (finding)
http://snomed.info/sct  738783002Human leukocyte antigen A*31:01 positive (finding)
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  738786005Cytochrome P450 family 2 subfamily C member 19 poor metabolizer (finding)
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 (finding)
http://snomed.info/sct  738790007Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer (finding)
http://snomed.info/sct  739062009Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding)
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 (finding)
http://snomed.info/sct  739071000HLA-B*58:01 negative
http://snomed.info/sct  739072007Human leukocyte antigen B*58:01 positive (finding)
http://snomed.info/sct  772077005Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding)
http://snomed.info/sct  772078000Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding)
http://snomed.info/sct  772107008NUDT15 normal metabolizer
http://snomed.info/sct  772108003Nudix hydrolase 15 intermediate metabolizer (finding)
http://snomed.info/sct  772109006Nudix hydrolase 15 possible intermediate metabolizer (finding)
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  787129005Vitamin K epoxide reductase complex 1 intermediate metabolizer (finding)
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  787192006Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding)
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  787366006Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding)
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  787380004Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding)
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 metabolizer (finding)
http://snomed.info/sct  787383002Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer
http://snomed.info/sct  787384008Cytochrome P450 family 3 subfamily A member 4 normal metabolizer (finding)
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  787405006Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding)
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 metabolizer (finding)
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  890189007Genetic susceptibility to malignant hyperthermia (finding)
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 (finding)
http://snomed.info/sct  1142134000Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)
http://snomed.info/sct  1144910008Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer (finding)
http://snomed.info/sct  1144913005Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer (finding)
http://snomed.info/sct  1144930007Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer (finding)
http://snomed.info/sct  1156628004Post-transcriptional genetic ribonucleic acid processing (finding)
http://snomed.info/sct  1162602001Human epidermal growth factor receptor 2 gene amplification detected (finding)
http://snomed.info/sct  1179760003Tumor mutational burden (finding)
http://snomed.info/sct  1217473009High tumour mutational burden
http://snomed.info/sct  1217474003Low tumor mutational burden (finding)
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 (finding)
http://snomed.info/sct  85121000119109Genetic susceptibility to cancer (finding)
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 (finding)
http://snomed.info/sct  248211000000106Human epidermal growth factor receptor 2 gene positive (finding)
http://snomed.info/sct  248221000000100Human epidermal growth factor receptor 2 gene negative (finding)
http://snomed.info/sct  302841000000105Non-significant homozygote
http://snomed.info/sct  912201000000104Fibrillin 1 gene mutation positive (finding)
http://snomed.info/sct  1099611000119109Hereditary non-polyposis colon cancer gene mutation positive (finding)

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code