NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFinding | Version: 2.2.0 | ||||
| Draft as of 2026-09-20 | 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.fhir.org based on SNOMED CT United Kingdom edition 12-Apr 2023
This value set contains 426 concepts
| System | Code | Display (en) | JSON | XML |
http://snomed.info/sct | 106221001 | Genetic finding (finding) | ||
http://snomed.info/sct | 816009 | Genetic recombination (finding) | ||
http://snomed.info/sct | 842009 | Consanguinity (finding) | ||
http://snomed.info/sct | 1168007 | Allotype (finding) | ||
http://snomed.info/sct | 1318006 | Post-translational genetic protein processing (finding) | ||
http://snomed.info/sct | 2308003 | Silent alleles (finding) | ||
http://snomed.info/sct | 2351004 | Genetic transduction (finding) | ||
http://snomed.info/sct | 3067005 | Weak C phenotype (finding) | ||
http://snomed.info/sct | 6800004 | Weak E phenotype (finding) | ||
http://snomed.info/sct | 7599007 | Genetic behavior (finding) | ||
http://snomed.info/sct | 8116006 | Phenotype finding (finding) | ||
http://snomed.info/sct | 9109004 | Genetic alleles (finding) | ||
http://snomed.info/sct | 10589004 | Genetic transcription (finding) | ||
http://snomed.info/sct | 12645001 | Gene amplification (finding) | ||
http://snomed.info/sct | 13300001 | Genetic linkage equilibrium (finding) | ||
http://snomed.info/sct | 13333006 | Genetic terminator region (finding) | ||
http://snomed.info/sct | 14915001 | Gene dosage compensation (finding) | ||
http://snomed.info/sct | 16345006 | Weak G phenotype (finding) | ||
http://snomed.info/sct | 17523003 | Genetic mosaic (finding) | ||
http://snomed.info/sct | 19482002 | Regulatory sequence (finding) | ||
http://snomed.info/sct | 22061001 | Homozygote (finding) | ||
http://snomed.info/sct | 22986007 | Transcriptional ribonucleic acid splicing (finding) | ||
http://snomed.info/sct | 24403008 | p phenotype (finding) | ||
http://snomed.info/sct | 25132006 | Weak N phenotype (finding) | ||
http://snomed.info/sct | 25194005 | Abnormal nucleotide base sequence (finding) | ||
http://snomed.info/sct | 25363001 | Genetic non disjunction (finding) | ||
http://snomed.info/sct | 25384006 | Weak S phenotype (finding) | ||
http://snomed.info/sct | 25900007 | Gene re-arrangement, B lymphocyte, heavy chain (finding) | ||
http://snomed.info/sct | 26608005 | Carbohydrate sequence (finding) | ||
http://snomed.info/sct | 28820008 | Amino acid sequence (finding) | ||
http://snomed.info/sct | 29286002 | Abnormal nucleic acid sequence (finding) | ||
http://snomed.info/sct | 29549004 | Ribosomal ribonucleic acid operon (finding) | ||
http://snomed.info/sct | 31091003 | Sister chromatid exchange (finding) | ||
http://snomed.info/sct | 32475006 | F>2< generation (finding) | ||
http://snomed.info/sct | 34216002 | Proposita (finding) | ||
http://snomed.info/sct | 34782005 | Chromosomal inheritance (finding) | ||
http://snomed.info/sct | 34850003 | Weak Fy^b^ phenotype (finding) | ||
http://snomed.info/sct | 35147005 | Genetic crossing over (finding) | ||
http://snomed.info/sct | 37819008 | Genetic sequence homology (finding) | ||
http://snomed.info/sct | 38194003 | Weak e phenotype (finding) | ||
http://snomed.info/sct | 38789009 | Genetic dosage effect (finding) | ||
http://snomed.info/sct | 39751009 | Genetic position effect (finding) | ||
http://snomed.info/sct | 40976007 | Genetic linkage disequilibrium (finding) | ||
http://snomed.info/sct | 41482005 | Molecular sequence data (finding) | ||
http://snomed.info/sct | 43245005 | Gene re-arrangement (finding) | ||
http://snomed.info/sct | 43376001 | Multiple alleles (finding) | ||
http://snomed.info/sct | 45212007 | F>1< generation (finding) | ||
http://snomed.info/sct | 45427005 | Hybrid vigor (finding) | ||
http://snomed.info/sct | 45597001 | Blood group A>3<B (finding) | ||
http://snomed.info/sct | 45803000 | Genetic promotor region (finding) | ||
http://snomed.info/sct | 47708004 | Genetic predisposition (finding) | ||
http://snomed.info/sct | 47986005 | Genetic anomaly of leukocyte (disorder) | ||
http://snomed.info/sct | 50334000 | Genetic polymorphism (finding) | ||
http://snomed.info/sct | 50606000 | Genetic selection (finding) | ||
http://snomed.info/sct | 51512005 | Nucleic acid repetitive sequence (finding) | ||
http://snomed.info/sct | 52816004 | Genetic transactivation (finding) | ||
http://snomed.info/sct | 54236009 | Genetic replication (finding) | ||
http://snomed.info/sct | 54828006 | Nucleotide base sequence (finding) | ||
http://snomed.info/sct | 55446002 | Genetic mutation (finding) | ||
http://snomed.info/sct | 56879003 | Genetic independent segregation (finding) | ||
http://snomed.info/sct | 57196006 | Gene frequency (finding) | ||
http://snomed.info/sct | 57652005 | Weak V phenotype (finding) | ||
http://snomed.info/sct | 58460004 | Blood group O (finding) | ||
http://snomed.info/sct | 60181007 | Allelic exclusion (finding) | ||
http://snomed.info/sct | 60844005 | Genetic inversion (finding) | ||
http://snomed.info/sct | 61668005 | Gene re-arrangement, gamma chain, T cell antigen receptor (finding) | ||
http://snomed.info/sct | 61828008 | Lysogeny (finding) | ||
http://snomed.info/sct | 63693001 | Genetic transformation (finding) | ||
http://snomed.info/sct | 64195000 | Genetic variation (finding) | ||
http://snomed.info/sct | 64245008 | Propositus (finding) | ||
http://snomed.info/sct | 64553001 | Secretor gene absent (se) (finding) | ||
http://snomed.info/sct | 65087006 | Weak M phenotype (finding) | ||
http://snomed.info/sct | 65247007 | Gene re-arrangement, T lymphocyte (finding) | ||
http://snomed.info/sct | 69604007 | Abnormal amino acid sequence (finding) | ||
http://snomed.info/sct | 69868005 | Genetic operator region (finding) | ||
http://snomed.info/sct | 72633008 | Base sequence (finding) | ||
http://snomed.info/sct | 72644000 | Gene re-arrangement, alpha chain, T cell antigen receptor (finding) | ||
http://snomed.info/sct | 73804003 | Homology region (finding) | ||
http://snomed.info/sct | 74354009 | Nucleic acid sequence homology (finding) | ||
http://snomed.info/sct | 74428002 | Genetic transfection (finding) | ||
http://snomed.info/sct | 74836001 | Secretor gene present (Se) (finding) | ||
http://snomed.info/sct | 78473004 | Gene re-arrangement, beta chain, T cell antigen receptor (finding) | ||
http://snomed.info/sct | 79248008 | Blood group A>1<B (finding) | ||
http://snomed.info/sct | 79667004 | Abnormal macromolecular sequence (finding) | ||
http://snomed.info/sct | 81835007 | Weak c phenotype (finding) | ||
http://snomed.info/sct | 81919004 | Hybridization (finding) | ||
http://snomed.info/sct | 82283002 | Genetic enhancer element (finding) | ||
http://snomed.info/sct | 83579008 | Mixed gonadal dysgenesis (disorder) | ||
http://snomed.info/sct | 85559002 | Pelger-Huët anomaly (disorder) | ||
http://snomed.info/sct | 85599004 | Gene template (finding) | ||
http://snomed.info/sct | 85900004 | Proband (finding) | ||
http://snomed.info/sct | 85938000 | Synteny (finding) | ||
http://snomed.info/sct | 86457007 | Nucleic acid regulatory sequence (finding) | ||
http://snomed.info/sct | 87682005 | Gene re-arrangement, B lymphocyte (finding) | ||
http://snomed.info/sct | 88942003 | Blood group A>2<B (finding) | ||
http://snomed.info/sct | 89017001 | Gene re-arrangement, B lymphocyte, light chain (finding) | ||
http://snomed.info/sct | 89109006 | Weak D phenotype (finding) | ||
http://snomed.info/sct | 89551006 | Gene expression (finding) | ||
http://snomed.info/sct | 89744004 | Abnormal carbohydrate sequence (finding) | ||
http://snomed.info/sct | 103225004 | P>2< phenotype (finding) | ||
http://snomed.info/sct | 110440006 | Barr body present, nuclear sex female (finding) | ||
http://snomed.info/sct | 110441005 | Barr body absent, nuclear sex male (finding) | ||
http://snomed.info/sct | 110442003 | Barr body, more than one present per cell (finding) | ||
http://snomed.info/sct | 112143006 | ABO group phenotype (finding) | ||
http://snomed.info/sct | 112144000 | Blood group A (finding) | ||
http://snomed.info/sct | 112149005 | Blood group B (finding) | ||
http://snomed.info/sct | 112211004 | Genetic translation (finding) | ||
http://snomed.info/sct | 112212006 | Extra chromosomal inheritance (finding) | ||
http://snomed.info/sct | 115665000 | Atopy (finding) | ||
http://snomed.info/sct | 115730009 | Hh blood group phenotype (finding) | ||
http://snomed.info/sct | 115731008 | Blood group O>h< Bombay (finding) | ||
http://snomed.info/sct | 115732001 | Blood group O>h< Bombay Indian type (finding) | ||
http://snomed.info/sct | 115734000 | Blood group O>h< Bombay Reunion type (finding) | ||
http://snomed.info/sct | 115735004 | Blood group Para-Bombay (finding) | ||
http://snomed.info/sct | 115736003 | Blood group A>h< (finding) | ||
http://snomed.info/sct | 115737007 | Blood group B>h< (finding) | ||
http://snomed.info/sct | 115748000 | Lewis blood group phenotype (finding) | ||
http://snomed.info/sct | 115749008 | Le(a-b-) phenotype (finding) | ||
http://snomed.info/sct | 115750008 | I blood group phenotype (finding) | ||
http://snomed.info/sct | 115751007 | i>cord< phenotype (finding) | ||
http://snomed.info/sct | 115752000 | i>adult< phenotype (finding) | ||
http://snomed.info/sct | 115753005 | i>1< phenotype (finding) | ||
http://snomed.info/sct | 115754004 | i>2< phenotype (finding) | ||
http://snomed.info/sct | 115755003 | I phenotype (finding) | ||
http://snomed.info/sct | 115756002 | I>int< phenotype (finding) | ||
http://snomed.info/sct | 115758001 | Rhesus blood group phenotype (finding) | ||
http://snomed.info/sct | 115759009 | Rh>null< phenotype (finding) | ||
http://snomed.info/sct | 115760004 | X^o^rX^o^r blood group phenotype (finding) | ||
http://snomed.info/sct | 115761000 | Rr^-^ blood group phenotype (finding) | ||
http://snomed.info/sct | 115762007 | Rh>mod< blood group phenotype (finding) | ||
http://snomed.info/sct | 115763002 | Trans weak D phenotype (finding) | ||
http://snomed.info/sct | 115764008 | Inherited weak D phenotype (finding) | ||
http://snomed.info/sct | 115794002 | P blood group phenotype (finding) | ||
http://snomed.info/sct | 115795001 | P>1< phenotype (finding) | ||
http://snomed.info/sct | 115796000 | P>1<^k^ phenotype (finding) | ||
http://snomed.info/sct | 115797009 | P>2<^k^ phenotype (finding) | ||
http://snomed.info/sct | 115798004 | Landsteiner-Wiener phenotype (finding) | ||
http://snomed.info/sct | 115799007 | LW(a-b-) phenotype (finding) | ||
http://snomed.info/sct | 115800006 | MNS blood group phenotype (finding) | ||
http://snomed.info/sct | 115801005 | M^k^M^k^ phenotype (finding) | ||
http://snomed.info/sct | 115802003 | U- phenotype (finding) | ||
http://snomed.info/sct | 115803008 | En(a-) phenotype (finding) | ||
http://snomed.info/sct | 115804002 | En(a-)(Fin) phenotype (finding) | ||
http://snomed.info/sct | 115805001 | En(a-)(United Kingdom) phenotype (finding) | ||
http://snomed.info/sct | 115821006 | Lutheran blood group phenotype (finding) | ||
http://snomed.info/sct | 115822004 | Lutheran negative phenotype (finding) | ||
http://snomed.info/sct | 115823009 | LuLu phenotype (finding) | ||
http://snomed.info/sct | 115824003 | In(Lu) phenotype (finding) | ||
http://snomed.info/sct | 115825002 | XS2 phenotype (finding) | ||
http://snomed.info/sct | 115826001 | Acquired Lutheran negative phenotype (finding) | ||
http://snomed.info/sct | 115827005 | Lutheran weak phenotype (finding) | ||
http://snomed.info/sct | 115830003 | Kidd blood group phenotype (finding) | ||
http://snomed.info/sct | 115831004 | Jk(a-b-) phenotype (finding) | ||
http://snomed.info/sct | 115832006 | JkJk phenotype (finding) | ||
http://snomed.info/sct | 115833001 | In(Jk) phenotype (finding) | ||
http://snomed.info/sct | 115834007 | Duffy blood group phenotype (finding) | ||
http://snomed.info/sct | 115835008 | Fy(a-b-) phenotype (finding) | ||
http://snomed.info/sct | 115837000 | Kell blood group phenotype (finding) | ||
http://snomed.info/sct | 115838005 | Kell>null< phenotype (finding) | ||
http://snomed.info/sct | 115839002 | Kell>mod< phenotype (finding) | ||
http://snomed.info/sct | 115844009 | Kx blood group phenotype (finding) | ||
http://snomed.info/sct | 115845005 | McLeod phenotype (finding) | ||
http://snomed.info/sct | 115851000 | Colton blood group phenotype (finding) | ||
http://snomed.info/sct | 115852007 | Co(a-b-) phenotype (finding) | ||
http://snomed.info/sct | 115853002 | Gerbich blood group phenotype (finding) | ||
http://snomed.info/sct | 115854008 | Gerbich positive phenotype (finding) | ||
http://snomed.info/sct | 115855009 | Gerbich negative phenotype (finding) | ||
http://snomed.info/sct | 115860008 | Cromer blood group phenotype (finding) | ||
http://snomed.info/sct | 115861007 | Inab phenotype (finding) | ||
http://snomed.info/sct | 115866002 | Chido-Rodgers blood group phenotype (finding) | ||
http://snomed.info/sct | 115867006 | Ch-Rg- phenotype (finding) | ||
http://snomed.info/sct | 115940004 | Blood group phenotype (finding) | ||
http://snomed.info/sct | 118205009 | Finding related to molecular sequence data (finding) | ||
http://snomed.info/sct | 124972006 | Alteration of genetic material (finding) | ||
http://snomed.info/sct | 124975008 | Somatic mutation (finding) | ||
http://snomed.info/sct | 124976009 | Temperature-sensitive mutation (finding) | ||
http://snomed.info/sct | 124977000 | Nucleotide base deletion (finding) | ||
http://snomed.info/sct | 124979002 | Mitotic alteration (finding) | ||
http://snomed.info/sct | 124980004 | Increased cell mitotic activity (finding) | ||
http://snomed.info/sct | 124981000 | Decreased cell mitotic activity (finding) | ||
http://snomed.info/sct | 124982007 | Mitotic arrest (finding) | ||
http://snomed.info/sct | 124988006 | Meiotic alteration (finding) | ||
http://snomed.info/sct | 131149001 | Blood group A>1< (finding) | ||
http://snomed.info/sct | 131150001 | Blood group A>2< (finding) | ||
http://snomed.info/sct | 131151002 | Blood group A>3< (finding) | ||
http://snomed.info/sct | 131152009 | Blood group A>x< (finding) | ||
http://snomed.info/sct | 131153004 | Blood group A>m< (finding) | ||
http://snomed.info/sct | 131154005 | Blood group A>y< (finding) | ||
http://snomed.info/sct | 131155006 | Blood group A>end< (finding) | ||
http://snomed.info/sct | 131156007 | Blood group A>el< (finding) | ||
http://snomed.info/sct | 131157003 | Blood group A variant (finding) | ||
http://snomed.info/sct | 131158008 | Blood group B variant (finding) | ||
http://snomed.info/sct | 131159000 | Blood group B>3< (finding) | ||
http://snomed.info/sct | 131160005 | Blood group B>m< (finding) | ||
http://snomed.info/sct | 131161009 | Blood group B>el< (finding) | ||
http://snomed.info/sct | 131162002 | Blood group B>w< (finding) | ||
http://snomed.info/sct | 131163007 | Blood group B>x< (finding) | ||
http://snomed.info/sct | 131164001 | Blood group A>m<^h^ (finding) | ||
http://snomed.info/sct | 131165000 | Blood group B>m<^h^ (finding) | ||
http://snomed.info/sct | 131166004 | Blood group O>m<^h^ (finding) | ||
http://snomed.info/sct | 131167008 | Blood group O>Hm< (finding) | ||
http://snomed.info/sct | 131168003 | Blood group O>Hm<^A^ (finding) | ||
http://snomed.info/sct | 131169006 | Blood group O>Hm<^B^ (finding) | ||
http://snomed.info/sct | 131178000 | Gerbich type (finding) | ||
http://snomed.info/sct | 131179008 | Yus type (finding) | ||
http://snomed.info/sct | 131180006 | Melasian type (finding) | ||
http://snomed.info/sct | 131181005 | Leach type (finding) | ||
http://snomed.info/sct | 165743006 | Blood group AB (finding) | ||
http://snomed.info/sct | 165746003 | RhD negative (finding) | ||
http://snomed.info/sct | 165747007 | RhD positive (finding) | ||
http://snomed.info/sct | 199738000 | Abnormal chromosomal and genetic finding on antenatal screening of mother (finding) | ||
http://snomed.info/sct | 250376006 | Rh negative Du positive (finding) | ||
http://snomed.info/sct | 250685002 | Alpha-1-antitrypsin phenotype PiMM (finding) | ||
http://snomed.info/sct | 250686001 | Alpha-1-antitrypsin phenotype PiZZ (finding) | ||
http://snomed.info/sct | 250687005 | Alpha-1-antitrypsin phenotype PiSS (finding) | ||
http://snomed.info/sct | 250688000 | Alpha-1-antitrypsin phenotype PiSZ (finding) | ||
http://snomed.info/sct | 250689008 | Alpha-1-antitrypsin phenotype PiMZ (finding) | ||
http://snomed.info/sct | 250690004 | Alpha-1-antitrypsin phenotype PiMS (finding) | ||
http://snomed.info/sct | 250691000 | Alpha-1-antitrypsin phenotype null (finding) | ||
http://snomed.info/sct | 250693002 | Apolipoprotein E phenotype E2:2 (finding) | ||
http://snomed.info/sct | 250694008 | Apolipoprotein E phenotype E3:3 (finding) | ||
http://snomed.info/sct | 250695009 | Apolipoprotein E phenotype E4:4 (finding) | ||
http://snomed.info/sct | 250696005 | Apolipoprotein E phenotype E2:3 (finding) | ||
http://snomed.info/sct | 250697001 | Apolipoprotein E phenotype E2:4 (finding) | ||
http://snomed.info/sct | 250698006 | Apolipoprotein E phenotype E3:4 (finding) | ||
http://snomed.info/sct | 264771009 | Acromegaloid phenotype (finding) | ||
http://snomed.info/sct | 278147001 | Blood group O Rh(D) positive (finding) | ||
http://snomed.info/sct | 278148006 | Blood group O Rh(D) negative (finding) | ||
http://snomed.info/sct | 278149003 | Blood group A Rh(D) positive (finding) | ||
http://snomed.info/sct | 278150003 | Blood group B Rh(D) positive (finding) | ||
http://snomed.info/sct | 278151004 | Blood group AB Rh(D) positive (finding) | ||
http://snomed.info/sct | 278152006 | Blood group A Rh(D) negative (finding) | ||
http://snomed.info/sct | 278153001 | Blood group B Rh(D) negative (finding) | ||
http://snomed.info/sct | 278154007 | Blood group AB Rh(D) negative (finding) | ||
http://snomed.info/sct | 302960008 | Mosaicism 45, X; 46, XX (disorder) | ||
http://snomed.info/sct | 312969002 | Normal genetic findings (finding) | ||
http://snomed.info/sct | 325753009 | Frame-shift mutation (finding) | ||
http://snomed.info/sct | 326724004 | Suppressor mutation (finding) | ||
http://snomed.info/sct | 327671006 | Nonsense mutation (finding) | ||
http://snomed.info/sct | 365832006 | Finding of alpha-1-antitrypsin phenotype (finding) | ||
http://snomed.info/sct | 365833001 | Finding of apolipoprotein E phenotype (finding) | ||
http://snomed.info/sct | 405847005 | Fy(a+b-) phenotype (finding) | ||
http://snomed.info/sct | 405848000 | Fy(a-b+) phenotype (finding) | ||
http://snomed.info/sct | 405849008 | Fy(a+b+) phenotype (finding) | ||
http://snomed.info/sct | 405850008 | Fy(a-) phenotype (finding) | ||
http://snomed.info/sct | 405851007 | Fy(a+) phenotype (finding) | ||
http://snomed.info/sct | 405852000 | Fy(b-) phenotype (finding) | ||
http://snomed.info/sct | 405853005 | Fy(b+) phenotype (finding) | ||
http://snomed.info/sct | 405854004 | Jk(a+) phenotype (finding) | ||
http://snomed.info/sct | 405855003 | Jk(a+b+) phenotype (finding) | ||
http://snomed.info/sct | 405856002 | Jk(a+b-) phenotype (finding) | ||
http://snomed.info/sct | 405857006 | Jk(a-) phenotype (finding) | ||
http://snomed.info/sct | 405858001 | Jk(a-b+) phenotype (finding) | ||
http://snomed.info/sct | 405859009 | Jk(b+) phenotype (finding) | ||
http://snomed.info/sct | 405860004 | Jk(b-) phenotype (finding) | ||
http://snomed.info/sct | 405861000 | Le(a+b-) phenotype (finding) | ||
http://snomed.info/sct | 405862007 | Le(a-b+) phenotype (finding) | ||
http://snomed.info/sct | 405863002 | Le(a-) phenotype (finding) | ||
http://snomed.info/sct | 405864008 | Le(a+) phenotype (finding) | ||
http://snomed.info/sct | 405865009 | Le(b+) phenotype (finding) | ||
http://snomed.info/sct | 405866005 | Le(b-) phenotype (finding) | ||
http://snomed.info/sct | 405868006 | Lu(a-b+) phenotype (finding) | ||
http://snomed.info/sct | 405869003 | Lu(a+b+) phenotype (finding) | ||
http://snomed.info/sct | 405870002 | Lu(a+b-) phenotype (finding) | ||
http://snomed.info/sct | 405871003 | Lu(a-) phenotype (finding) | ||
http://snomed.info/sct | 405872005 | Lu(a+) phenotype (finding) | ||
http://snomed.info/sct | 405873000 | Lu(b+) phenotype (finding) | ||
http://snomed.info/sct | 405874006 | Lu(b-) phenotype (finding) | ||
http://snomed.info/sct | 405875007 | M+ phenotype (finding) | ||
http://snomed.info/sct | 405876008 | M- phenotype (finding) | ||
http://snomed.info/sct | 405877004 | Le(a+b+) phenotype (finding) | ||
http://snomed.info/sct | 405878009 | N+ phenotype (finding) | ||
http://snomed.info/sct | 405879001 | N- phenotype (finding) | ||
http://snomed.info/sct | 405880003 | M-N- phenotype (finding) | ||
http://snomed.info/sct | 405881004 | M+N- phenotype (finding) | ||
http://snomed.info/sct | 405882006 | M+N+ phenotype (finding) | ||
http://snomed.info/sct | 405883001 | M-N+ phenotype (finding) | ||
http://snomed.info/sct | 405884007 | S- phenotype (finding) | ||
http://snomed.info/sct | 405885008 | S+ phenotype (finding) | ||
http://snomed.info/sct | 405886009 | s- phenotype (finding) | ||
http://snomed.info/sct | 405887000 | s+ phenotype (finding) | ||
http://snomed.info/sct | 405888005 | S+s+ phenotype (finding) | ||
http://snomed.info/sct | 405889002 | S-s+ phenotype (finding) | ||
http://snomed.info/sct | 405890006 | S-s- phenotype (finding) | ||
http://snomed.info/sct | 405891005 | S+s- phenotype (finding) | ||
http://snomed.info/sct | 405892003 | K+ phenotype (finding) | ||
http://snomed.info/sct | 405893008 | K- phenotype (finding) | ||
http://snomed.info/sct | 405894002 | k- phenotype (finding) | ||
http://snomed.info/sct | 405895001 | k+ phenotype (finding) | ||
http://snomed.info/sct | 405896000 | K+k+ phenotype (finding) | ||
http://snomed.info/sct | 405897009 | K+k- phenotype (finding) | ||
http://snomed.info/sct | 405898004 | K-k- phenotype (finding) | ||
http://snomed.info/sct | 405899007 | K-k+ phenotype (finding) | ||
http://snomed.info/sct | 405900002 | P1+ phenotype (finding) | ||
http://snomed.info/sct | 405901003 | P1- phenotype (finding) | ||
http://snomed.info/sct | 412730000 | Negative genetic finding (finding) | ||
http://snomed.info/sct | 412731001 | Positive genetic finding (finding) | ||
http://snomed.info/sct | 412734009 | BRCA1 gene mutation positive (finding) | ||
http://snomed.info/sct | 412736006 | BRCA1 gene mutation negative (finding) | ||
http://snomed.info/sct | 412738007 | BRCA2 gene mutation positive (finding) | ||
http://snomed.info/sct | 412739004 | BRCA2 gene mutation negative (finding) | ||
http://snomed.info/sct | 413596002 | Atherogenic lipoprotein phenotype (finding) | ||
http://snomed.info/sct | 430934002 | Mitochondrial mutation (finding) | ||
http://snomed.info/sct | 445180002 | Breast cancer genetic marker of susceptibility negative (finding) | ||
http://snomed.info/sct | 445333001 | Breast cancer genetic marker of susceptibility positive (finding) | ||
http://snomed.info/sct | 471281007 | Point mutation (finding) | ||
http://snomed.info/sct | 471282000 | Chromosome microdeletion (finding) | ||
http://snomed.info/sct | 702781009 | Mitochondrial 1555 A to G mutation negative (finding) | ||
http://snomed.info/sct | 702782002 | Mitochondrial 1555 A to G mutation positive (finding) | ||
http://snomed.info/sct | 702783007 | Heterozygous protocadherin 19 gene mutation positive (finding) | ||
http://snomed.info/sct | 705105000 | Human epidermal growth factor 2 gene amplification negative (finding) | ||
http://snomed.info/sct | 709075008 | Aromatase excess syndrome (disorder) | ||
http://snomed.info/sct | 710010005 | Mosaic Turner syndrome (disorder) | ||
http://snomed.info/sct | 710019006 | Mosaicism 45, X or other cell line with abnormal sex chromosome (disorder) | ||
http://snomed.info/sct | 719007008 | Positive for tumor protein p53 (finding) | ||
http://snomed.info/sct | 733119003 | Rhc negative (finding) | ||
http://snomed.info/sct | 733120009 | Rhc positive (finding) | ||
http://snomed.info/sct | 738288005 | Human leukocyte antigen B*57:01 positive (finding) | ||
http://snomed.info/sct | 738289002 | Human leukocyte antigen B*57:01 negative (finding) | ||
http://snomed.info/sct | 738532000 | Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) | ||
http://snomed.info/sct | 738533005 | Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738534004 | Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding) | ||
http://snomed.info/sct | 738535003 | Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 738536002 | Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metabolizer (finding) | ||
http://snomed.info/sct | 738537006 | Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738538001 | Uridine diphosphate glucuronosyltransferase family 1 member A1 normal metabolizer (finding) | ||
http://snomed.info/sct | 738539009 | Thiopurine S-methyltransferase poor metabolizer (finding) | ||
http://snomed.info/sct | 738540006 | Thiopurine S-methyltransferase intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738541005 | Thiopurine S-methyltransferase normal metabolizer (finding) | ||
http://snomed.info/sct | 738542003 | Dihydropyrimidine dehydrogenase poor metabolizer (finding) | ||
http://snomed.info/sct | 738543008 | Dihydropyrimidine dehydrogenase intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738544002 | Dihydropyrimidine dehydrogenase normal metabolizer (finding) | ||
http://snomed.info/sct | 738545001 | Cytochrome P450 family 2 subfamily C member 9 poor metabolizer (finding) | ||
http://snomed.info/sct | 738546000 | Cytochrome P450 family 2 subfamily C member 9 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738547009 | Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding) | ||
http://snomed.info/sct | 738760000 | Solute carrier organic anion transporter family member 1B1 poor function (finding) | ||
http://snomed.info/sct | 738761001 | Solute carrier organic anion transporter family member 1B1 decreased function (finding) | ||
http://snomed.info/sct | 738762008 | Solute carrier organic anion transporter family member 1B1 normal function (finding) | ||
http://snomed.info/sct | 738763003 | Solute carrier organic anion transporter family member 1B1 increased function (finding) | ||
http://snomed.info/sct | 738764009 | Cytochrome P450 family 2 subfamily B member 6 poor metabolizer (finding) | ||
http://snomed.info/sct | 738765005 | Cytochrome P450 family 2 subfamily B member 6 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738766006 | Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) | ||
http://snomed.info/sct | 738782007 | Human leukocyte antigen A*31:01 negative (finding) | ||
http://snomed.info/sct | 738783002 | Human leukocyte antigen A*31:01 positive (finding) | ||
http://snomed.info/sct | 738784008 | Human leukocyte antigen B*15:02 negative (finding) | ||
http://snomed.info/sct | 738785009 | Human leukocyte antigen B*15:02 positive (finding) | ||
http://snomed.info/sct | 738786005 | Cytochrome P450 family 2 subfamily C member 19 poor metabolizer (finding) | ||
http://snomed.info/sct | 738787001 | Cytochrome P450 family 2 subfamily C member 19 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 738788006 | Cytochrome P450 family 2 subfamily C member 19 normal metabolizer (finding) | ||
http://snomed.info/sct | 738789003 | Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) | ||
http://snomed.info/sct | 738790007 | Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 739062009 | Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) | ||
http://snomed.info/sct | 739063004 | Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 739064005 | Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) | ||
http://snomed.info/sct | 739071000 | Human leukocyte antigen B*58:01 negative (finding) | ||
http://snomed.info/sct | 739072007 | Human leukocyte antigen B*58:01 positive (finding) | ||
http://snomed.info/sct | 772077005 | Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding) | ||
http://snomed.info/sct | 772078000 | Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 772107008 | Nudix hydrolase 15 normal metabolizer (finding) | ||
http://snomed.info/sct | 772108003 | Nudix hydrolase 15 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 772109006 | Nudix hydrolase 15 possible intermediate metabolizer (finding) | ||
http://snomed.info/sct | 772110001 | Nudix hydrolase 15 poor metabolizer (finding) | ||
http://snomed.info/sct | 781386002 | Deficiency of nudix hydrolase 15 (disorder) | ||
http://snomed.info/sct | 787128002 | Vitamin K epoxide reductase complex 1 poor metabolizer (finding) | ||
http://snomed.info/sct | 787129005 | Vitamin K epoxide reductase complex 1 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787130000 | Vitamin K epoxide reductase complex 1 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787131001 | Vitamin K epoxide reductase complex 1 normal metabolizer (finding) | ||
http://snomed.info/sct | 787132008 | Vitamin K epoxide reductase complex 1 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787133003 | Vitamin K epoxide reductase complex 1 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787134009 | Vitamin K epoxide reductase complex 1 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 787154005 | Cytochrome P450 family 2 subfamily C member 9 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787192006 | Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 787193001 | Cytochrome P450 family 2 subfamily C member 9 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787194007 | Cytochrome P450 family 2 subfamily C member 9 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787358002 | Cytochrome P450 family 2 subfamily C member 19 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787360000 | Cytochrome P450 family 2 subfamily C member 19 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787363003 | Cytochrome P450 family 1 subfamily A member 2 poor metabolizer (finding) | ||
http://snomed.info/sct | 787364009 | Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787365005 | Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787366006 | Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787367002 | Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787368007 | Cytochrome P450 family 1 subfamily A member 2 normal metabolizer (finding) | ||
http://snomed.info/sct | 787369004 | Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 787380004 | Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) | ||
http://snomed.info/sct | 787381000 | Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787382007 | Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787383002 | Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787384008 | Cytochrome P450 family 3 subfamily A member 4 normal metabolizer (finding) | ||
http://snomed.info/sct | 787385009 | Cytochrome P450 family 3 subfamily A member 4 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787386005 | Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 787403004 | Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer (finding) | ||
http://snomed.info/sct | 787404005 | Cytochrome P450 family 3 subfamily A member 5 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787405006 | Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787406007 | Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer (finding) | ||
http://snomed.info/sct | 787433006 | Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer (finding) | ||
http://snomed.info/sct | 787434000 | Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer (finding) | ||
http://snomed.info/sct | 787435004 | Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer (finding) | ||
http://snomed.info/sct | 792857006 | N-acetyltransferase 2 slow acetylator (finding) | ||
http://snomed.info/sct | 890189007 | Genetic susceptibility to malignant hyperthermia (finding) | ||
http://snomed.info/sct | 1003612008 | Cytochrome P450 family 4 subfamily F member 2 poor metabolizer (finding) | ||
http://snomed.info/sct | 1003641004 | Human leukocyte antigen DQB1*02:02 positive (finding) | ||
http://snomed.info/sct | 1004155003 | Uncertain genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding) | ||
http://snomed.info/sct | 1010400009 | Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding) | ||
http://snomed.info/sct | 1141749000 | Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (finding) | ||
http://snomed.info/sct | 1142134000 | Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) | ||
http://snomed.info/sct | 1144910008 | Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer (finding) | ||
http://snomed.info/sct | 1144913005 | Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer (finding) | ||
http://snomed.info/sct | 1144930007 | Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer (finding) | ||
http://snomed.info/sct | 1156628004 | Post-transcriptional genetic ribonucleic acid processing (finding) | ||
http://snomed.info/sct | 1162602001 | Human epidermal growth factor receptor 2 gene amplification detected (finding) | ||
http://snomed.info/sct | 1179760003 | Tumor mutational burden (finding) | ||
http://snomed.info/sct | 1217473009 | High tumor mutational burden (finding) | ||
http://snomed.info/sct | 1217474003 | Low tumor mutational burden (finding) | ||
http://snomed.info/sct | 1237618009 | Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) | ||
http://snomed.info/sct | 1254911003 | Hypermelanotic pigmentary mosaicism (disorder) | ||
http://snomed.info/sct | 71951000119107 | Genetic susceptibility to genetic disorder (finding) | ||
http://snomed.info/sct | 85121000119109 | Genetic susceptibility to cancer (finding) | ||
http://snomed.info/sct | 204871000237101 | Apolipoprotein B gene mutation positive (finding) | ||
http://snomed.info/sct | 204881000237104 | Proprotein convertase subtilisin/kexin type 9 gene mutation positive (finding) | ||
http://snomed.info/sct | 204891000237102 | Low density lipoprotein receptor gene mutation positive (finding) | ||
http://snomed.info/sct | 204901000237101 | Apolipoprotein E gene mutation positive (finding) | ||
http://snomed.info/sct | 248211000000106 | Human epidermal growth factor receptor 2 gene positive (finding) | ||
http://snomed.info/sct | 248221000000100 | Human epidermal growth factor receptor 2 gene negative (finding) | ||
http://snomed.info/sct | 302841000000105 | Non-significant homozygote (finding) | ||
http://snomed.info/sct | 912201000000104 | Fibrillin 1 gene mutation positive (finding) | ||
http://snomed.info/sct | 1099611000119109 | Hereditary non-polyposis colon cancer gene mutation positive (finding) |