SNOMED CT Concept  138875005

Clinical finding  404684003

Procedure related finding  127325009

Evaluation finding  441742003

Genetic finding   106221001

SNOMED CT code


SNOMED code106221001
nameGenetic finding
statusactive
date introduced2002-01-31
fully specified name(s)Genetic finding (finding)
synonyms
  • Genetic finding
  • Genetic observations
attributes - group1
InterpretsGenetic test   405824009
parentsEvaluation finding   441742003
children
  • Abnormal chromosomal and genetic finding on antenatal screening of mother   199738000
  • Allelic exclusion   60181007
  • Allotype   1168007
  • Alteration of genetic material   124972006
  • Aromatase excess syndrome   709075008
  • Barr body absent, nuclear sex male   110441005
  • Barr body present, nuclear sex female   110440006
  • Barr body, more than one present per cell   110442003
  • Chromosomal inheritance   34782005
  • Chromosome microdeletion   471282000
  • Consanguinity   842009
  • CYP2B6 intermediate metabolizer   738765005
  • CYP2B6 normal metabolizer   738766006
  • CYP2B6 poor metabolizer   738764009
  • CYP2B6 rapid metabolizer   772077005
  • CYP2B6 ultra-rapid metabolizer   772078000
  • CYP2C19 intermediate metabolizer   738787001
  • CYP2C19 normal metabolizer   738788006
  • CYP2C19 poor metabolizer   738786005
  • CYP2C19 rapid metabolizer   738789003
  • CYP2C19 ultra-rapid metabolizer   738790007
  • CYP2C9 intermediate metabolizer   738546000
  • CYP2C9 normal metabolizer   738547009
  • CYP2C9 poor metabolizer   738545001
  • CYP2D6 extensive metabolizer   765103003  removed: 2020-01-31
  • CYP2D6 intermediate metabolizer   738533005
  • CYP2D6 normal metabolizer   738534004
  • CYP2D6 poor metabolizer   738532000
  • CYP2D6 ultra-rapid metabolizer   738535003
  • CYP3A5 intermediate metabolizer   739063004
  • CYP3A5 normal metabolizer   739064005
  • CYP3A5 poor metabolizer   739062009
  • Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer   787365005
  • Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer   787364009
  • Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer   787366006
  • Cytochrome P450 family 1 subfamily A member 2 normal metabolizer   787368007
  • Cytochrome P450 family 1 subfamily A member 2 poor metabolizer   787363003
  • Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer   787367002
  • Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer   787369004
  • Cytochrome P450 family 2 subfamily C member 19 high intermediate metabolizer   787358002
  • Cytochrome P450 family 2 subfamily C member 19 low normal metabolizer   787360000
  • Cytochrome P450 family 2 subfamily C member 9 high intermediate metabolizer   787194007
  • Cytochrome P450 family 2 subfamily C member 9 low normal metabolizer   787154005
  • Cytochrome P450 family 2 subfamily C member 9 rapid metabolizer   787193001
  • Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer   787192006
  • Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer   787434000
  • Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer   787435004
  • Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer   787433006
  • Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer   787382007
  • Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer   787381000
  • Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer   787383002
  • Cytochrome P450 family 3 subfamily A member 4 normal metabolizer   787384008
  • Cytochrome P450 family 3 subfamily A member 4 poor metabolizer   787380004
  • Cytochrome P450 family 3 subfamily A member 4 rapid metabolizer   787385009
  • Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metabolizer   787386005
  • Cytochrome P450 family 3 subfamily A member 5 high intermediate metabolizer   787404005
  • Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer   787403004
  • Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer   787405006
  • Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer   787406007
  • Cytochrome P450 family 4 subfamily F member 2 poor metabolizer   1003612008
  • Decreased cell mitotic activity   124981000
  • DNA studies   395131007  removed: 2003-07-31
  • DPYD intermediate metabolizer   738543008
  • DPYD normal metabolizer   738544002
  • DPYD poor metabolizer   738542003
  • Extra chromosomal inheritance   112212006
  • F>1< generation   45212007
  • F>2< generation   32475006
  • Finding related to molecular sequence data   118205009
  • Gene amplification   12645001
  • Gene dosage compensation   14915001
  • Gene expression   89551006
  • Gene frequency   57196006
  • Gene re-arrangement   43245005
  • Gene template   85599004
  • Genetic alleles   9109004
  • Genetic anomaly of leukocyte   47986005
  • Genetic behavior   7599007
  • Genetic crossing over   35147005
  • Genetic dosage effect   38789009
  • Genetic enhancer element   82283002
  • Genetic finding detected   412731001
  • Genetic finding not detected   412730000
  • Genetic independent segregation   56879003
  • Genetic inversion   60844005
  • Genetic linkage disequilibrium   40976007
  • Genetic linkage equilibrium   13300001
  • Genetic mosaic   17523003
  • Genetic mutation   55446002
  • Genetic non disjunction   25363001
  • Genetic polymorphism   50334000
  • Genetic position effect   39751009
  • Genetic predisposition   47708004
  • Genetic recombination   816009
  • Genetic replication   54236009
  • Genetic selection   50606000
  • Genetic sequence homology   37819008
  • Genetic transactivation   52816004
  • Genetic transcription   10589004
  • Genetic transduction   2351004
  • Genetic transfection   74428002
  • Genetic transformation   63693001
  • Genetic translation   112211004
  • Genetic variation   64195000
  • Homology region   73804003
  • Homozygote   22061001
  • Human leukocyte antigen B27 not detected   736698001
  • Hybrid vigor   45427005
  • Hybridization   81919004
  • Increased cell mitotic activity   124980004
  • Lysogeny   61828008
  • Meiotic alteration   124988006
  • Mitotic alteration   124979002
  • Mitotic arrest   124982007
  • Molecular sequence data   41482005
  • Multiple alleles   43376001
  • N-acetyltransferase 2 slow acetylator   792857006
  • Normal genetic findings   312969002
  • NUDT15 deficiency   781386002
  • NUDT15 intermediate metabolizer   772108003
  • NUDT15 normal metabolizer   772107008
  • NUDT15 poor metabolizer   772110001
  • NUDT15 possible intermediate metabolizer   772109006
  • Phenotype   8116006
  • Phenotype - finding   365831004  removed: 2002-07-31
  • Point mutation   471281007
  • Post-transcriptional genetic ribonucleic acid processing   1156628004
  • Post-translational genetic RNA processing   11834004  removed: 2021-07-31
  • Proband   85900004
  • Proposita   34216002
  • Propositus   64245008
  • Regulatory sequence   19482002
  • Silent alleles   2308003
  • Sister chromatid exchange   31091003
  • SLCO1B1 decreased function   738761001
  • SLCO1B1 increased function   738763003
  • SLCO1B1 normal function   738762008
  • SLCO1B1 poor function   738760000
  • Synteny   85938000
  • TPMT intermediate metabolizer   738540006
  • TPMT normal metabolizer   738541005
  • TPMT poor metabolizer   738539009
  • UGT1A1 intermediate metabolizer   738537006
  • UGT1A1 normal metabolizer   738538001
  • UGT1A1 poor metabolizer   738536002
  • Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation   1004155003
  • Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation   1142134000
  • Vitamin K epoxide reductase complex 1 high intermediate metabolizer   787130000
  • Vitamin K epoxide reductase complex 1 intermediate metabolizer   787129005
  • Vitamin K epoxide reductase complex 1 low normal metabolizer   787132008
  • Vitamin K epoxide reductase complex 1 normal metabolizer   787131001
  • Vitamin K epoxide reductase complex 1 poor metabolizer   787128002
  • Vitamin K epoxide reductase complex 1 rapid metabolizer   787133003
  • Vitamin K epoxide reductase complex 1 ultra-rapid metabolizer   787134009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Genetic finding   106221001

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

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