NHS North West Genomics
            
            0.0.8 - ci-build
  
            
          
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFinding | Version: 0.0.8 | |||
| Draft as of 2025-10-31 | 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)
http://snomed.info/sct version Not Stated (use latest from terminology server) where concept  is-a 106221001 (Genetic finding)
Expansion from tx.ontoserver.csiro.au based on SNOMED CT United Kingdom edition 02-Jul 2025
This value set contains 453 concepts
| System | Code | Display (en) | JSON | XML | 
| http://snomed.info/sct | 1351233008 | ABCG2 decreased function | ||
| http://snomed.info/sct | 1351231005 | ABCG2 normal function | ||
| http://snomed.info/sct | 1351232003 | ABCG2 poor function | ||
| http://snomed.info/sct | 69604007 | Abnormal amino acid sequence | ||
| http://snomed.info/sct | 89744004 | Abnormal carbohydrate sequence | ||
| http://snomed.info/sct | 199738000 | Abnormal chromosomal and genetic finding on antenatal screening of mother | ||
| http://snomed.info/sct | 79667004 | Abnormal macromolecular sequence | ||
| http://snomed.info/sct | 29286002 | Abnormal nucleic acid sequence | ||
| http://snomed.info/sct | 25194005 | Abnormal nucleotide base sequence | ||
| http://snomed.info/sct | 112143006 | ABO group phenotype | ||
| http://snomed.info/sct | 115826001 | Acquired Lutheran negative phenotype | ||
| http://snomed.info/sct | 264771009 | Acromegaloid phenotype | ||
| http://snomed.info/sct | 60181007 | Allelic exclusion | ||
| http://snomed.info/sct | 1168007 | Allotype | ||
| http://snomed.info/sct | 365832006 | Alpha-1-antitrypsin phenotype - finding | ||
| http://snomed.info/sct | 250691000 | Alpha-1-antitrypsin phenotype null | ||
| http://snomed.info/sct | 250685002 | Alpha-1-antitrypsin phenotype PiMM | ||
| http://snomed.info/sct | 250690004 | Alpha-1-antitrypsin phenotype PiMS | ||
| http://snomed.info/sct | 250689008 | Alpha-1-antitrypsin phenotype PiMZ | ||
| http://snomed.info/sct | 250687005 | Alpha-1-antitrypsin phenotype PiSS | ||
| http://snomed.info/sct | 250688000 | Alpha-1-antitrypsin phenotype PiSZ | ||
| http://snomed.info/sct | 250686001 | Alpha-1-antitrypsin phenotype PiZZ | ||
| http://snomed.info/sct | 124972006 | Alteration of genetic material | ||
| http://snomed.info/sct | 28820008 | Amino acid sequence | ||
| http://snomed.info/sct | 204871000237101 | Apolipoprotein B gene mutation positive | ||
| http://snomed.info/sct | 204901000237101 | Apolipoprotein E gene mutation positive | ||
| http://snomed.info/sct | 365833001 | Apolipoprotein E phenotype - finding | ||
| http://snomed.info/sct | 250693002 | Apolipoprotein E phenotype E2:2 | ||
| http://snomed.info/sct | 250696005 | Apolipoprotein E phenotype E2:3 | ||
| http://snomed.info/sct | 250697001 | Apolipoprotein E phenotype E2:4 | ||
| http://snomed.info/sct | 250694008 | Apolipoprotein E phenotype E3:3 | ||
| http://snomed.info/sct | 250698006 | Apolipoprotein E phenotype E3:4 | ||
| http://snomed.info/sct | 250695009 | Apolipoprotein E phenotype E4:4 | ||
| http://snomed.info/sct | 709075008 | Aromatase excess syndrome | ||
| http://snomed.info/sct | 413596002 | Atherogenic lipoprotein phenotype | ||
| http://snomed.info/sct | 115665000 | Atopy | ||
| http://snomed.info/sct | 110441005 | Barr body absent, nuclear sex male | ||
| http://snomed.info/sct | 110440006 | Barr body present, nuclear sex female | ||
| http://snomed.info/sct | 110442003 | Barr body, more than one present per cell | ||
| http://snomed.info/sct | 72633008 | Base sequence | ||
| http://snomed.info/sct | 112144000 | Blood group A | ||
| http://snomed.info/sct | 278152006 | Blood group A Rh(D) negative | ||
| http://snomed.info/sct | 278149003 | Blood group A Rh(D) positive | ||
| http://snomed.info/sct | 131157003 | Blood group A variant | ||
| http://snomed.info/sct | 131149001 | Blood group A>1< | ||
| http://snomed.info/sct | 79248008 | Blood group A>1<B | ||
| http://snomed.info/sct | 131150001 | Blood group A>2< | ||
| http://snomed.info/sct | 88942003 | Blood group A>2<B | ||
| http://snomed.info/sct | 131151002 | Blood group A>3< | ||
| http://snomed.info/sct | 45597001 | Blood group A>3<B | ||
| http://snomed.info/sct | 131156007 | Blood group A>el< | ||
| http://snomed.info/sct | 131155006 | Blood group A>end< | ||
| http://snomed.info/sct | 115736003 | Blood group A>h< | ||
| http://snomed.info/sct | 131153004 | Blood group A>m< | ||
| http://snomed.info/sct | 131164001 | Blood group A>m<^h^ | ||
| http://snomed.info/sct | 131152009 | Blood group A>x< | ||
| http://snomed.info/sct | 131154005 | Blood group A>y< | ||
| http://snomed.info/sct | 165743006 | Blood group AB | ||
| http://snomed.info/sct | 278154007 | Blood group AB Rh(D) negative | ||
| http://snomed.info/sct | 278151004 | Blood group AB Rh(D) positive | ||
| http://snomed.info/sct | 112149005 | Blood group B | ||
| http://snomed.info/sct | 278153001 | Blood group B Rh(D) negative | ||
| http://snomed.info/sct | 278150003 | Blood group B Rh(D) positive | ||
| http://snomed.info/sct | 131158008 | Blood group B variant | ||
| http://snomed.info/sct | 131159000 | Blood group B>3< | ||
| http://snomed.info/sct | 131161009 | Blood group B>el< | ||
| http://snomed.info/sct | 115737007 | Blood group B>h< | ||
| http://snomed.info/sct | 131160005 | Blood group B>m< | ||
| http://snomed.info/sct | 131165000 | Blood group B>m<^h^ | ||
| http://snomed.info/sct | 131162002 | Blood group B>w< | ||
| http://snomed.info/sct | 131163007 | Blood group B>x< | ||
| http://snomed.info/sct | 58460004 | Blood group O | ||
| http://snomed.info/sct | 278148006 | Blood group O Rh(D) negative | ||
| http://snomed.info/sct | 278147001 | Blood group O Rh(D) positive | ||
| http://snomed.info/sct | 115731008 | Blood group O>h< Bombay | ||
| http://snomed.info/sct | 115732001 | Blood group O>h< Bombay Indian type | ||
| http://snomed.info/sct | 115734000 | Blood group O>h< Bombay Reunion type | ||
| http://snomed.info/sct | 131167008 | Blood group O>Hm< | ||
| http://snomed.info/sct | 131168003 | Blood group O>Hm<^A^ | ||
| http://snomed.info/sct | 131169006 | Blood group O>Hm<^B^ | ||
| http://snomed.info/sct | 131166004 | Blood group O>m<^h^ | ||
| http://snomed.info/sct | 115735004 | Blood group Para-Bombay | ||
| http://snomed.info/sct | 115940004 | Blood group phenotype | ||
| http://snomed.info/sct | 412734009 | BRCA1 gene mutation detected | ||
| http://snomed.info/sct | 412736006 | BRCA1 gene mutation not detected | ||
| http://snomed.info/sct | 412738007 | BRCA2 gene mutation detected | ||
| http://snomed.info/sct | 412739004 | BRCA2 gene mutation not detected | ||
| http://snomed.info/sct | 445333001 | Breast cancer genetic marker of susceptibility detected | ||
| http://snomed.info/sct | 445180002 | Breast cancer genetic marker of susceptibility not detected | ||
| http://snomed.info/sct | 26608005 | Carbohydrate sequence | ||
| http://snomed.info/sct | 115867006 | Ch-Rg- phenotype | ||
| http://snomed.info/sct | 115866002 | Chido-Rodgers blood group phenotype | ||
| http://snomed.info/sct | 34782005 | Chromosomal inheritance | ||
| http://snomed.info/sct | 471282000 | Chromosome microdeletion | ||
| http://snomed.info/sct | 115852007 | Co(a-b-) phenotype | ||
| http://snomed.info/sct | 115851000 | Colton blood group phenotype | ||
| http://snomed.info/sct | 842009 | Consanguinity | ||
| http://snomed.info/sct | 115860008 | Cromer blood group phenotype | ||
| http://snomed.info/sct | 738765005 | CYP2B6 intermediate metabolizer | ||
| http://snomed.info/sct | 738766006 | CYP2B6 normal metabolizer | ||
| http://snomed.info/sct | 738764009 | CYP2B6 poor metabolizer | ||
| http://snomed.info/sct | 772077005 | CYP2B6 rapid metaboliser | ||
| http://snomed.info/sct | 772078000 | CYP2B6 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 738787001 | CYP2C19 intermediate metabolizer | ||
| http://snomed.info/sct | 738788006 | CYP2C19 normal metabolizer | ||
| http://snomed.info/sct | 738786005 | CYP2C19 poor metabolizer | ||
| http://snomed.info/sct | 738789003 | CYP2C19 rapid metabolizer | ||
| http://snomed.info/sct | 738790007 | CYP2C19 ultra-rapid metabolizer | ||
| http://snomed.info/sct | 738546000 | CYP2C9 intermediate metabolizer | ||
| http://snomed.info/sct | 738547009 | CYP2C9 normal metabolizer | ||
| http://snomed.info/sct | 738545001 | CYP2C9 poor metabolizer | ||
| http://snomed.info/sct | 738533005 | CYP2D6 intermediate metabolizer | ||
| http://snomed.info/sct | 738534004 | CYP2D6 normal metabolizer | ||
| http://snomed.info/sct | 738532000 | CYP2D6 poor metabolizer | ||
| http://snomed.info/sct | 738535003 | CYP2D6 ultra-rapid metabolizer | ||
| http://snomed.info/sct | 739063004 | CYP3A5 intermediate metabolizer | ||
| http://snomed.info/sct | 739064005 | CYP3A5 normal metabolizer | ||
| http://snomed.info/sct | 739062009 | CYP3A5 poor metabolizer | ||
| http://snomed.info/sct | 787365005 | Cytochrome P450 family 1 subfamily A member 2 high intermediate metaboliser | ||
| http://snomed.info/sct | 787364009 | Cytochrome P450 family 1 subfamily A member 2 intermediate metaboliser | ||
| http://snomed.info/sct | 787366006 | Cytochrome P450 family 1 subfamily A member 2 low normal metaboliser | ||
| http://snomed.info/sct | 787368007 | Cytochrome P450 family 1 subfamily A member 2 normal metaboliser | ||
| http://snomed.info/sct | 787363003 | Cytochrome P450 family 1 subfamily A member 2 poor metaboliser | ||
| http://snomed.info/sct | 787367002 | Cytochrome P450 family 1 subfamily A member 2 rapid metaboliser | ||
| http://snomed.info/sct | 787369004 | Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 787358002 | Cytochrome P450 family 2 subfamily C member 19 high intermediate metaboliser | ||
| http://snomed.info/sct | 787360000 | Cytochrome P450 family 2 subfamily C member 19 low normal metaboliser | ||
| http://snomed.info/sct | 1144913005 | Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metaboliser | ||
| http://snomed.info/sct | 1144930007 | Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metaboliser | ||
| http://snomed.info/sct | 1144910008 | Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metaboliser | ||
| http://snomed.info/sct | 787194007 | Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser | ||
| http://snomed.info/sct | 787154005 | Cytochrome P450 family 2 subfamily C member 9 low normal metaboliser | ||
| http://snomed.info/sct | 787193001 | Cytochrome P450 family 2 subfamily C member 9 rapid metaboliser | ||
| http://snomed.info/sct | 787192006 | Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 787434000 | Cytochrome P450 family 2 subfamily D member 6 high intermediate metaboliser | ||
| http://snomed.info/sct | 787435004 | Cytochrome P450 family 2 subfamily D member 6 low normal metaboliser | ||
| http://snomed.info/sct | 787433006 | Cytochrome P450 family 2 subfamily D member 6 rapid metaboliser | ||
| http://snomed.info/sct | 787382007 | Cytochrome P450 family 3 subfamily A member 4 high intermediate metaboliser | ||
| http://snomed.info/sct | 787381000 | Cytochrome P450 family 3 subfamily A member 4 intermediate metaboliser | ||
| http://snomed.info/sct | 787383002 | Cytochrome P450 family 3 subfamily A member 4 low normal metaboliser | ||
| http://snomed.info/sct | 787384008 | Cytochrome P450 family 3 subfamily A member 4 normal metaboliser | ||
| http://snomed.info/sct | 787380004 | Cytochrome P450 family 3 subfamily A member 4 poor metaboliser | ||
| http://snomed.info/sct | 787385009 | Cytochrome P450 family 3 subfamily A member 4 rapid metaboliser | ||
| http://snomed.info/sct | 787386005 | Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 787404005 | Cytochrome P450 family 3 subfamily A member 5 high intermediate metaboliser | ||
| http://snomed.info/sct | 787403004 | Cytochrome P450 family 3 subfamily A member 5 low normal metaboliser | ||
| http://snomed.info/sct | 787405006 | Cytochrome P450 family 3 subfamily A member 5 rapid metaboliser | ||
| http://snomed.info/sct | 787406007 | Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 1003612008 | Cytochrome P450 family 4 subfamily F member 2 poor metaboliser | ||
| http://snomed.info/sct | 124981000 | Decreased cell mitotic activity | ||
| http://snomed.info/sct | 738543008 | DPYD intermediate metaboliser | ||
| http://snomed.info/sct | 738544002 | DPYD normal metabolizer | ||
| http://snomed.info/sct | 738542003 | DPYD poor metabolizer | ||
| http://snomed.info/sct | 115834007 | Duffy blood group phenotype | ||
| http://snomed.info/sct | 115803008 | En(a-) phenotype | ||
| http://snomed.info/sct | 115804002 | En(a-)(Fin) phenotype | ||
| http://snomed.info/sct | 115805001 | En(a-)(UK) phenotype | ||
| http://snomed.info/sct | 112212006 | Extra chromosomal inheritance | ||
| http://snomed.info/sct | 45212007 | F>1< generation | ||
| http://snomed.info/sct | 32475006 | F>2< generation | ||
| http://snomed.info/sct | 912201000000104 | FBN1 gene mutation positive | ||
| http://snomed.info/sct | 118205009 | Finding related to molecular sequence data | ||
| http://snomed.info/sct | 325753009 | Frame-shift mutation | ||
| http://snomed.info/sct | 405851007 | Fy(a+) phenotype | ||
| http://snomed.info/sct | 405849008 | Fy(a+b+) phenotype | ||
| http://snomed.info/sct | 405847005 | Fy(a+b-) phenotype | ||
| http://snomed.info/sct | 405850008 | Fy(a-) phenotype | ||
| http://snomed.info/sct | 405848000 | Fy(a-b+) phenotype | ||
| http://snomed.info/sct | 115835008 | Fy(a-b-) phenotype | ||
| http://snomed.info/sct | 405853005 | Fy(b+) phenotype | ||
| http://snomed.info/sct | 405852000 | Fy(b-) phenotype | ||
| http://snomed.info/sct | 12645001 | Gene amplification | ||
| http://snomed.info/sct | 14915001 | Gene dosage compensation | ||
| http://snomed.info/sct | 89551006 | Gene expression | ||
| http://snomed.info/sct | 57196006 | Gene frequency | ||
| http://snomed.info/sct | 43245005 | Gene re-arrangement | ||
| http://snomed.info/sct | 72644000 | Gene re-arrangement, alpha chain, T cell antigen receptor | ||
| http://snomed.info/sct | 87682005 | Gene re-arrangement, B lymphocyte | ||
| http://snomed.info/sct | 25900007 | Gene re-arrangement, B lymphocyte, heavy chain | ||
| http://snomed.info/sct | 89017001 | Gene re-arrangement, B lymphocyte, light chain | ||
| http://snomed.info/sct | 78473004 | Gene re-arrangement, beta chain, T cell antigen receptor | ||
| http://snomed.info/sct | 61668005 | Gene re-arrangement, gamma chain, T cell antigen receptor | ||
| http://snomed.info/sct | 65247007 | Gene re-arrangement, T lymphocyte | ||
| http://snomed.info/sct | 85599004 | Gene template | ||
| http://snomed.info/sct | 9109004 | Genetic alleles | ||
| http://snomed.info/sct | 47986005 | Genetic anomaly of leucocyte | ||
| http://snomed.info/sct | 7599007 | Genetic behaviour | ||
| http://snomed.info/sct | 35147005 | Genetic crossing over | ||
| http://snomed.info/sct | 38789009 | Genetic dosage effect | ||
| http://snomed.info/sct | 82283002 | Genetic enhancer element | ||
| http://snomed.info/sct | 106221001 | Genetic finding | ||
| http://snomed.info/sct | 412731001 | Genetic finding detected | ||
| http://snomed.info/sct | 412730000 | Genetic finding not detected | ||
| http://snomed.info/sct | 56879003 | Genetic independent segregation | ||
| http://snomed.info/sct | 60844005 | Genetic inversion | ||
| http://snomed.info/sct | 40976007 | Genetic linkage disequilibrium | ||
| http://snomed.info/sct | 13300001 | Genetic linkage equilibrium | ||
| http://snomed.info/sct | 17523003 | Genetic mosaic | ||
| http://snomed.info/sct | 55446002 | Genetic mutation | ||
| http://snomed.info/sct | 25363001 | Genetic non disjunction | ||
| http://snomed.info/sct | 69868005 | Genetic operator region | ||
| http://snomed.info/sct | 50334000 | Genetic polymorphism | ||
| http://snomed.info/sct | 39751009 | Genetic position effect | ||
| http://snomed.info/sct | 47708004 | Genetic predisposition | ||
| http://snomed.info/sct | 16077891000119104 | Genetic predisposition to malignant neoplasm of prostate | ||
| http://snomed.info/sct | 45803000 | Genetic promotor region | ||
| http://snomed.info/sct | 816009 | Genetic recombination | ||
| http://snomed.info/sct | 54236009 | Genetic replication | ||
| http://snomed.info/sct | 50606000 | Genetic selection | ||
| http://snomed.info/sct | 37819008 | Genetic sequence homology | ||
| http://snomed.info/sct | 85121000119109 | Genetic susceptibility to cancer | ||
| http://snomed.info/sct | 71951000119107 | Genetic susceptibility to genetic disorder | ||
| http://snomed.info/sct | 1141749000 | Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation | ||
| http://snomed.info/sct | 1010400009 | Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | ||
| http://snomed.info/sct | 13333006 | Genetic terminator region | ||
| http://snomed.info/sct | 52816004 | Genetic transactivation | ||
| http://snomed.info/sct | 10589004 | Genetic transcription | ||
| http://snomed.info/sct | 2351004 | Genetic transduction | ||
| http://snomed.info/sct | 74428002 | Genetic transfection | ||
| http://snomed.info/sct | 63693001 | Genetic transformation | ||
| http://snomed.info/sct | 112211004 | Genetic translation | ||
| http://snomed.info/sct | 64195000 | Genetic variation | ||
| http://snomed.info/sct | 115853002 | Gerbich blood group phenotype | ||
| http://snomed.info/sct | 115855009 | Gerbich negative phenotype | ||
| http://snomed.info/sct | 115854008 | Gerbich positive phenotype | ||
| http://snomed.info/sct | 131178000 | Gerbich type | ||
| http://snomed.info/sct | 1296783008 | Hereditary alpha-tryptasaemia trait detected | ||
| http://snomed.info/sct | 1099611000119109 | Hereditary non-polyposis colon cancer gene mutation detected | ||
| http://snomed.info/sct | 1279971008 | Heterozygous NFKBIA gene mutation detected | ||
| http://snomed.info/sct | 702783007 | Heterozygous protocadherin 19 gene mutation detected | ||
| http://snomed.info/sct | 115730009 | Hh blood group phenotype | ||
| http://snomed.info/sct | 1217473009 | High tumour mutational burden | ||
| http://snomed.info/sct | 738783002 | HLA-A*31:01 detected | ||
| http://snomed.info/sct | 738785009 | HLA-B*15:02 detected | ||
| http://snomed.info/sct | 738288005 | HLA-B*57:01 detected | ||
| http://snomed.info/sct | 739072007 | HLA-B*58:01 positive | ||
| http://snomed.info/sct | 73804003 | Homology region | ||
| http://snomed.info/sct | 22061001 | Homozygote | ||
| http://snomed.info/sct | 705105000 | Human epidermal growth factor 2 gene amplification not detected | ||
| http://snomed.info/sct | 1162602001 | Human epidermal growth factor receptor 2 gene amplification detected | ||
| http://snomed.info/sct | 248221000000100 | Human epidermal growth factor receptor 2 gene negative | ||
| http://snomed.info/sct | 248211000000106 | Human epidermal growth factor receptor 2 gene positive | ||
| http://snomed.info/sct | 1875431000000101 | Human erythrocyte antigen phenotype prediction result indeterminate | ||
| http://snomed.info/sct | 1875391000000109 | Human erythrocyte antigen phenotype prediction result negative | ||
| http://snomed.info/sct | 1875421000000103 | Human erythrocyte antigen phenotype prediction result partial positive | ||
| http://snomed.info/sct | 1875381000000107 | Human erythrocyte antigen phenotype prediction result positive | ||
| http://snomed.info/sct | 1875411000000109 | Human erythrocyte antigen phenotype prediction result weak positive | ||
| http://snomed.info/sct | 1003641004 | Human leucocyte antigen DQB1*02:02 positive | ||
| http://snomed.info/sct | 738782007 | Human leukocyte antigen A*31:01 not detected | ||
| http://snomed.info/sct | 738784008 | Human leukocyte antigen B*15:02 not detected | ||
| http://snomed.info/sct | 738289002 | Human leukocyte antigen B*57:01 not detected | ||
| http://snomed.info/sct | 739071000 | Human leukocyte antigen B*58:01 not detected | ||
| http://snomed.info/sct | 736698001 | Human leukocyte antigen B27 not detected | ||
| http://snomed.info/sct | 713597002 | Human leukocyte antigen B5701 detected | ||
| http://snomed.info/sct | 45427005 | Hybrid vigor | ||
| http://snomed.info/sct | 81919004 | Hybridisation | ||
| http://snomed.info/sct | 1254911003 | Hypermelanotic pigmentary mosaicism | ||
| http://snomed.info/sct | 115750008 | I blood group phenotype | ||
| http://snomed.info/sct | 115755003 | I phenotype | ||
| http://snomed.info/sct | 115753005 | i>1< phenotype | ||
| http://snomed.info/sct | 115754004 | i>2< phenotype | ||
| http://snomed.info/sct | 115752000 | i>adult< phenotype | ||
| http://snomed.info/sct | 115751007 | i>cord< phenotype | ||
| http://snomed.info/sct | 115756002 | I>int< phenotype | ||
| http://snomed.info/sct | 115833001 | In(Jk) phenotype | ||
| http://snomed.info/sct | 115824003 | In(Lu) phenotype | ||
| http://snomed.info/sct | 115861007 | Inab phenotype | ||
| http://snomed.info/sct | 124980004 | Increased cell mitotic activity | ||
| http://snomed.info/sct | 115764008 | Inherited weak D phenotype | ||
| http://snomed.info/sct | 1306859008 | Intron 1 inversion | ||
| http://snomed.info/sct | 1306860003 | Intron 22 inversion | ||
| http://snomed.info/sct | 405854004 | Jk(a+) phenotype | ||
| http://snomed.info/sct | 405855003 | Jk(a+b+) phenotype | ||
| http://snomed.info/sct | 405856002 | Jk(a+b-) phenotype | ||
| http://snomed.info/sct | 405857006 | Jk(a-) phenotype | ||
| http://snomed.info/sct | 405858001 | Jk(a-b+) phenotype | ||
| http://snomed.info/sct | 115831004 | Jk(a-b-) phenotype | ||
| http://snomed.info/sct | 405859009 | Jk(b+) phenotype | ||
| http://snomed.info/sct | 405860004 | Jk(b-) phenotype | ||
| http://snomed.info/sct | 115832006 | JkJk phenotype | ||
| http://snomed.info/sct | 405892003 | K+ phenotype | ||
| http://snomed.info/sct | 405895001 | k+ phenotype | ||
| http://snomed.info/sct | 405896000 | K+k+ phenotype | ||
| http://snomed.info/sct | 405897009 | K+k- phenotype | ||
| http://snomed.info/sct | 405894002 | k- phenotype | ||
| http://snomed.info/sct | 405893008 | K- phenotype | ||
| http://snomed.info/sct | 405899007 | K-k+ phenotype | ||
| http://snomed.info/sct | 405898004 | K-k- phenotype | ||
| http://snomed.info/sct | 115837000 | Kell blood group phenotype | ||
| http://snomed.info/sct | 115839002 | Kell>mod< phenotype | ||
| http://snomed.info/sct | 115838005 | Kell>null< phenotype | ||
| http://snomed.info/sct | 115830003 | Kidd blood group phenotype | ||
| http://snomed.info/sct | 115844009 | Kx blood group phenotype | ||
| http://snomed.info/sct | 115798004 | Landsteiner-Wiener phenotype | ||
| http://snomed.info/sct | 405864008 | Le(a+) phenotype | ||
| http://snomed.info/sct | 405877004 | Le(a+b+) phenotype | ||
| http://snomed.info/sct | 405861000 | Le(a+b-) phenotype | ||
| http://snomed.info/sct | 405863002 | Le(a-) phenotype | ||
| http://snomed.info/sct | 405862007 | Le(a-b+) phenotype | ||
| http://snomed.info/sct | 115749008 | Le(a-b-) phenotype | ||
| http://snomed.info/sct | 405865009 | Le(b+) phenotype | ||
| http://snomed.info/sct | 405866005 | Le(b-) phenotype | ||
| http://snomed.info/sct | 131181005 | Leach type | ||
| http://snomed.info/sct | 115748000 | Lewis blood group phenotype | ||
| http://snomed.info/sct | 204891000237102 | Low density lipoprotein receptor gene mutation positive | ||
| http://snomed.info/sct | 1217474003 | Low tumour mutational burden | ||
| http://snomed.info/sct | 405872005 | Lu(a+) phenotype | ||
| http://snomed.info/sct | 405869003 | Lu(a+b+) phenotype | ||
| http://snomed.info/sct | 405870002 | Lu(a+b-) phenotype | ||
| http://snomed.info/sct | 405871003 | Lu(a-) phenotype | ||
| http://snomed.info/sct | 405868006 | Lu(a-b+) phenotype | ||
| http://snomed.info/sct | 405873000 | Lu(b+) phenotype | ||
| http://snomed.info/sct | 405874006 | Lu(b-) phenotype | ||
| http://snomed.info/sct | 115823009 | LuLu phenotype | ||
| http://snomed.info/sct | 115821006 | Lutheran blood group phenotype | ||
| http://snomed.info/sct | 115822004 | Lutheran negative phenotype | ||
| http://snomed.info/sct | 115827005 | Lutheran weak phenotype | ||
| http://snomed.info/sct | 115799007 | LW(a-b-) phenotype | ||
| http://snomed.info/sct | 61828008 | Lysogeny | ||
| http://snomed.info/sct | 405875007 | M+ phenotype | ||
| http://snomed.info/sct | 405882006 | M+N+ phenotype | ||
| http://snomed.info/sct | 405881004 | M+N- phenotype | ||
| http://snomed.info/sct | 405876008 | M- phenotype | ||
| http://snomed.info/sct | 405883001 | M-N+ phenotype | ||
| http://snomed.info/sct | 405880003 | M-N- phenotype | ||
| http://snomed.info/sct | 115801005 | M^k^M^k^ phenotype | ||
| http://snomed.info/sct | 890189007 | Malignant hyperthermia genetic susceptibility | ||
| http://snomed.info/sct | 115845005 | McLeod phenotype | ||
| http://snomed.info/sct | 124988006 | Meiotic alteration | ||
| http://snomed.info/sct | 131180006 | Melasian type | ||
| http://snomed.info/sct | 1306850007 | Missense mutation | ||
| http://snomed.info/sct | 702782002 | Mitochondrial 1555 A to G mutation detected | ||
| http://snomed.info/sct | 702781009 | Mitochondrial 1555 A to G mutation not detected | ||
| http://snomed.info/sct | 430934002 | Mitochondrial mutation | ||
| http://snomed.info/sct | 124979002 | Mitotic alteration | ||
| http://snomed.info/sct | 124982007 | Mitotic arrest | ||
| http://snomed.info/sct | 1351894008 | Mixed field RhD | ||
| http://snomed.info/sct | 83579008 | Mixed gonadal dysgenesis | ||
| http://snomed.info/sct | 115800006 | MNS blood group phenotype | ||
| http://snomed.info/sct | 41482005 | Molecular sequence data | ||
| http://snomed.info/sct | 710010005 | Mosaic Turner syndrome | ||
| http://snomed.info/sct | 710019006 | Mosaicism 45, X or other cell line with abnormal sex chromosome | ||
| http://snomed.info/sct | 302960008 | Mosaicism 45, X; 46, XX | ||
| http://snomed.info/sct | 43376001 | Multiple alleles | ||
| http://snomed.info/sct | 405878009 | N+ phenotype | ||
| http://snomed.info/sct | 405879001 | N- phenotype | ||
| http://snomed.info/sct | 792857006 | N-acetyltransferase 2 slow acetylator | ||
| http://snomed.info/sct | 302841000000105 | Non-significant homozygote | ||
| http://snomed.info/sct | 327671006 | Nonsense mutation | ||
| http://snomed.info/sct | 312969002 | Normal genetic findings | ||
| http://snomed.info/sct | 86457007 | Nucleic acid regulatory sequence | ||
| http://snomed.info/sct | 51512005 | Nucleic acid repetitive sequence | ||
| http://snomed.info/sct | 74354009 | Nucleic acid sequence homology | ||
| http://snomed.info/sct | 124977000 | Nucleotide base deletion | ||
| http://snomed.info/sct | 54828006 | Nucleotide base sequence | ||
| http://snomed.info/sct | 781386002 | NUDT15 deficiency | ||
| http://snomed.info/sct | 772108003 | NUDT15 intermediate metaboliser | ||
| http://snomed.info/sct | 772107008 | NUDT15 normal metaboliser | ||
| http://snomed.info/sct | 772110001 | NUDT15 poor metaboliser | ||
| http://snomed.info/sct | 772109006 | NUDT15 possible intermediate metaboliser | ||
| http://snomed.info/sct | 115794002 | P blood group phenotype | ||
| http://snomed.info/sct | 24403008 | p phenotype | ||
| http://snomed.info/sct | 405900002 | P1+ phenotype | ||
| http://snomed.info/sct | 405901003 | P1- phenotype | ||
| http://snomed.info/sct | 115795001 | P>1< phenotype | ||
| http://snomed.info/sct | 115796000 | P>1<^k^ phenotype | ||
| http://snomed.info/sct | 103225004 | P>2< phenotype | ||
| http://snomed.info/sct | 115797009 | P>2<^k^ phenotype | ||
| http://snomed.info/sct | 85559002 | Pelger-Huët anomaly | ||
| http://snomed.info/sct | 8116006 | Phenotype | ||
| http://snomed.info/sct | 471281007 | Point mutation | ||
| http://snomed.info/sct | 1156628004 | Post-transcriptional genetic ribonucleic acid processing | ||
| http://snomed.info/sct | 1318006 | Post-translational genetic protein processing | ||
| http://snomed.info/sct | 85900004 | Proband | ||
| http://snomed.info/sct | 1336206001 | Promoter mutation | ||
| http://snomed.info/sct | 34216002 | Proposita | ||
| http://snomed.info/sct | 64245008 | Propositus | ||
| http://snomed.info/sct | 204881000237104 | Proprotein convertase subtilisin/kexin type 9 gene mutation positive | ||
| http://snomed.info/sct | 1357792009 | PTEN (phosphatase and tensin homolog) gene mutation detected | ||
| http://snomed.info/sct | 1357791002 | PTEN (phosphatase and tensin homolog) gene mutation not detected | ||
| http://snomed.info/sct | 19482002 | Regulatory sequence | ||
| http://snomed.info/sct | 115758001 | Rh (Rhesus) blood group phenotype | ||
| http://snomed.info/sct | 250376006 | Rh negative Du positive | ||
| http://snomed.info/sct | 115762007 | Rh>mod< blood group phenotype | ||
| http://snomed.info/sct | 115759009 | Rh>null< phenotype | ||
| http://snomed.info/sct | 733119003 | Rhc negative | ||
| http://snomed.info/sct | 733120009 | Rhc positive | ||
| http://snomed.info/sct | 165746003 | RhD negative | ||
| http://snomed.info/sct | 165747007 | RhD positive | ||
| http://snomed.info/sct | 115761000 | Rr^-^ blood group phenotype | ||
| http://snomed.info/sct | 29549004 | RRNA operon | ||
| http://snomed.info/sct | 405887000 | s+ phenotype | ||
| http://snomed.info/sct | 405885008 | S+ phenotype | ||
| http://snomed.info/sct | 405888005 | S+s+ phenotype | ||
| http://snomed.info/sct | 405891005 | S+s- phenotype | ||
| http://snomed.info/sct | 405884007 | S- phenotype | ||
| http://snomed.info/sct | 405886009 | s- phenotype | ||
| http://snomed.info/sct | 405889002 | S-s+ phenotype | ||
| http://snomed.info/sct | 405890006 | S-s- phenotype | ||
| http://snomed.info/sct | 64553001 | Secretor gene absent (se) | ||
| http://snomed.info/sct | 74836001 | Secretor gene present (Se) | ||
| http://snomed.info/sct | 1237618009 | Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome | ||
| http://snomed.info/sct | 2308003 | Silent alleles | ||
| http://snomed.info/sct | 31091003 | Sister chromatid exchange | ||
| http://snomed.info/sct | 738761001 | SLCO1B1 decreased function | ||
| http://snomed.info/sct | 738763003 | SLCO1B1 increased function | ||
| http://snomed.info/sct | 738762008 | SLCO1B1 normal function | ||
| http://snomed.info/sct | 738760000 | SLCO1B1 poor function | ||
| http://snomed.info/sct | 1336122005 | Small deletion | ||
| http://snomed.info/sct | 1336123000 | Small insertion | ||
| http://snomed.info/sct | 124975008 | Somatic mutation | ||
| http://snomed.info/sct | 1306851006 | Splice site mutation | ||
| http://snomed.info/sct | 1331913009 | Structural variant | ||
| http://snomed.info/sct | 326724004 | Suppressor mutation | ||
| http://snomed.info/sct | 1306861004 | Synonymous single nucleotide substitution | ||
| http://snomed.info/sct | 85938000 | Synteny | ||
| http://snomed.info/sct | 124976009 | Temperature-sensitive mutation | ||
| http://snomed.info/sct | 738540006 | TPMT intermediate metabolizer | ||
| http://snomed.info/sct | 738541005 | TPMT normal metabolizer | ||
| http://snomed.info/sct | 738539009 | TPMT poor metabolizer | ||
| http://snomed.info/sct | 115763002 | Trans weak D phenotype | ||
| http://snomed.info/sct | 22986007 | Transcriptional RNA splicing | ||
| http://snomed.info/sct | 689861000119100 | Triplicated alpha globin gene | ||
| http://snomed.info/sct | 1179760003 | Tumour mutational burden | ||
| http://snomed.info/sct | 719007008 | Tumour protein p53 detected | ||
| http://snomed.info/sct | 115802003 | U- phenotype | ||
| http://snomed.info/sct | 738537006 | UGT1A1 intermediate metabolizer | ||
| http://snomed.info/sct | 738538001 | UGT1A1 normal metabolizer | ||
| http://snomed.info/sct | 738536002 | UGT1A1 poor metabolizer | ||
| http://snomed.info/sct | 1004155003 | Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation | ||
| http://snomed.info/sct | 1142134000 | Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation | ||
| http://snomed.info/sct | 1336209008 | UTR (untranslated region) mutation | ||
| http://snomed.info/sct | 787130000 | Vitamin K epoxide reductase complex 1 high intermediate metaboliser | ||
| http://snomed.info/sct | 787129005 | Vitamin K epoxide reductase complex 1 intermediate metaboliser | ||
| http://snomed.info/sct | 787132008 | Vitamin K epoxide reductase complex 1 low normal metaboliser | ||
| http://snomed.info/sct | 787131001 | Vitamin K epoxide reductase complex 1 normal metaboliser | ||
| http://snomed.info/sct | 787128002 | Vitamin K epoxide reductase complex 1 poor metaboliser | ||
| http://snomed.info/sct | 787133003 | Vitamin K epoxide reductase complex 1 rapid metaboliser | ||
| http://snomed.info/sct | 787134009 | Vitamin K epoxide reductase complex 1 ultra-rapid metaboliser | ||
| http://snomed.info/sct | 3067005 | Weak C phenotype | ||
| http://snomed.info/sct | 81835007 | Weak c phenotype | ||
| http://snomed.info/sct | 89109006 | Weak D phenotype | ||
| http://snomed.info/sct | 6800004 | Weak E phenotype | ||
| http://snomed.info/sct | 38194003 | Weak e phenotype | ||
| http://snomed.info/sct | 34850003 | Weak Fy^b^ phenotype | ||
| http://snomed.info/sct | 16345006 | Weak G phenotype | ||
| http://snomed.info/sct | 65087006 | Weak M phenotype | ||
| http://snomed.info/sct | 25132006 | Weak N phenotype | ||
| http://snomed.info/sct | 25384006 | Weak S phenotype | ||
| http://snomed.info/sct | 57652005 | Weak V phenotype | ||
| http://snomed.info/sct | 115760004 | X^o^rX^o^r blood group phenotype | ||
| http://snomed.info/sct | 115825002 | XS2 phenotype | ||
| http://snomed.info/sct | 131179008 | Yus type | 
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 |