SNOMED Clinical Terms - Genetic test - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Genetic test
Synonyms	Genetic test (procedure)
ID	405824009
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/405824009
CONCEPTSTATUS	0
CTV3ID	XUaPt
has_method	Evaluation - action
has_priority	Priorities
is_interpreted_by	Lu(a-b-) phenotype Apolipoprotein E phenotype E2:3 S+s+ phenotype Genetic non disjunction Nucleic acid repetitive sequence Apolipoprotein E phenotype - finding P>2 Somatic mutation Genetic replication Normal genetic findings Gene expression Weak S phenotype En(a-)(Fin) phenotype Genetic transformation Nucleic acid regulatory sequence Synteny Le(a+b-) phenotype Alpha-1-antitrypsin phenotype PiMS P>2< phenotype XS2 phenotype Blood group A>m Blood group AB Rh(D) negative M+N+ phenotype Jk(a-) phenotype Gene re-arrangement, T lymphocyte Alpha-1-antitrypsin phenotype PiZZ N+ phenotype Weak M phenotype Ch-Rg- phenotype F>2< generation Gene re-arrangement, B lymphocyte, heavy chain Mitochondrial mutation Blood group A>2 Genetic linkage equilibrium K-k+ phenotype Extra chromosomal inheritance Fy(a+) phenotype Blood group A>y< Finding related to molecular sequence data X^o^rX^o^r blood group phenotype Blood group Para-Bombay Barr body, more than one present per cell Lu(a+) phenotype Genetic crossing over Fy(a+b-) phenotype Inab phenotype Genetic mosaic Allotype K- phenotype Genetic promotor region I>int< phenotype Genetic sequence homology Lu(a-b+) phenotype Blood group B P1+ phenotype Propositus Increased cell mitotic activity Apolipoprotein E phenotype E2:4 Genetic inversion S-s+ phenotype Abnormal nucleic acid sequence Temperature-sensitive mutation Amino acid sequence I blood group phenotype Landsteiner-Wiener phenotype Kidd blood group phenotype En(a-)(UK) phenotype Le(a-b+) phenotype Regulatory sequence ABO group phenotype Post-translational genetic protein processing Hybrid vigor Alpha-1-antitrypsin phenotype null Colton blood group phenotype Base sequence Acquired Lutheran negative phenotype Blood group B>m Weak D phenotype M-N+ phenotype Jk(a-b+) phenotype Genetic operator region Alpha-1-antitrypsin phenotype PiSS Genetic position effect Phenotype Acromegaloid phenotype Blood group AB *UGT1A128 polymorphism N- phenotype Abnormal nucleotide base sequence Blood group O Fy(b-) phenotype Melasian type Blood group A>1 Genetic mutation Blood group A>end< Blood group A>h< Rr^-^ blood group phenotype Abnormal amino acid sequence Lu(b+) phenotype Abnormal carbohydrate sequence Sister chromatid exchange Fy(a-b+) phenotype Kell blood group phenotype k- phenotype P1- phenotype Gene re-arrangement, alpha chain, T cell antigen receptor Lu(a+b+) phenotype Molecular sequence data Apolipoprotein E phenotype E3:4 Hh blood group phenotype Post-translational genetic RNA processing Decreased cell mitotic activity LW(a-b-) phenotype Weak N phenotype i>cord< phenotype Jk(a-b-) phenotype Gene template Gene re-arrangement, B lymphocyte Hybridization Nucleotide base deletion Secretor gene absent (se) Le(a-) phenotype Weak Fy^b^ phenotype Co(a-b-) phenotype Genetic terminator region Blood group A Blood group O>m Lutheran weak phenotype S- phenotype Jk(b+) phenotype Genetic alleles p phenotype Carbohydrate sequence MNS blood group phenotype Alpha-1-antitrypsin phenotype PiSZ Gene re-arrangement, beta chain, T cell antigen receptor Allelic exclusion Genetic transduction Transcriptional RNA splicing Genetic linkage disequilibrium Lutheran blood group phenotype Blood group B>m< Genetic anomaly of leukocyte Abnormal macromolecular sequence Blood group B Rh(D) positive Fy(b+) phenotype Breast cancer genetic marker of susceptibility positive Leach type Blood group A>el< Meiotic alteration Rh>mod< blood group phenotype Blood group B>h< Lu(b-) phenotype Fy(a+b+) phenotype Proposita Kell>null< phenotype Rh blood group phenotype k+ phenotype Mitotic arrest Blood group O>h< Bombay Blood group A>2< Reading-frame-shift mutation JkJk phenotype RRNA operon Genetic finding Genetic enhancer element Le(a+) phenotype Negative genetic finding i>adult< phenotype Blood group O>Hm< Apolipoprotein E phenotype E2:2 Gerbich blood group phenotype S+ phenotype Lysogeny Lewis blood group phenotype Blood group antigen A variant Gene re-arrangement Alpha-1-antitrypsin phenotype PiMZ Genetic recombination Gene re-arrangement, gamma chain, T cell antigen receptor Alteration of genetic material M^k^M^k^ phenotype P blood group phenotype Genetic transfection Nucleotide base sequence Rh negative Du positive Blood group B>el< Genetic predisposition Intron Lutheran negative phenotype Blood group AB Rh(D) positive Blood group A>3 Jk(a+) phenotype Genetic polymorphism Blood group A variant Gene amplification Trans weak D phenotype M+ phenotype Secretor gene present (Se) Genetic transcription Blood group O Rh(D) positive Chromosomal inheritance Weak C phenotype Rh>null< phenotype Kell>mod< phenotype Gerbich type Pelger-Huët anomaly K+k+ phenotype Blood group A>3< Blood group O>h< Bombay Indian type Multiple alleles i>1< phenotype In(Jk) phenotype Mitotic alteration Positive genetic finding Le(b+) phenotype S-s- phenotype Apolipoprotein E phenotype E3:3 Gerbich positive phenotype Le(a-b-) phenotype Blood group O>Hm s- phenotype Genetic selection Genetic behavior Weak G phenotype Weak e phenotype Consanguinity Genetic dosage effect Weak c phenotype U- phenotype P>1< phenotype RhD negative LuLu phenotype Blood group B>w< Homozygote Blood group A Rh(D) negative M-N- phenotype Nonsense mutation Jk(a+b+) phenotype Kx blood group phenotype Blood group B variant Inherited weak D phenotype F>1< generation M- phenotype Blood group O Rh(D) negative Yus type Weak V phenotype K+k- phenotype Exon Blood group A>x< Blood group O>h< Bombay Indian variant Barr body present, nuclear sex female Lu(a+b-) phenotype Duffy blood group phenotype Genetic transactivation i>2< phenotype S+s- phenotype Le(b-) phenotype Suppressor mutation Apolipoprotein E phenotype E4:4 Gerbich negative phenotype Gene frequency Blood group O>Hm Nucleic acid sequence homology Alpha-1-antitrypsin phenotype - finding s+ phenotype Frame-shift mutation En(a-) phenotype Weak E phenotype Silent alleles Genetic independent segregation Gene dosage compensation P>1 RhD positive Jk(b-) phenotype Abnormal chromosomal and genetic finding on antenatal screening of mother Blood group B>x< Breast cancer genetic marker of susceptibility negative In(Lu) phenotype Homology region M+N- phenotype Blood group B Rh(D) negative Jk(a+b-) phenotype McLeod phenotype Alpha-1-antitrypsin phenotype PiMM Blood group B>3< Le(a+b+) phenotype Blood group A Rh(D) positive Atherogenic lipoprotein phenotype Chido-Rodgers blood group phenotype Fy(a-) phenotype K-k- phenotype Genetic translation Blood group A>m< Barr body absent, nuclear sex male Genetic variation Blood group O>h< Bombay Reunion type Proband Lu(a-) phenotype Cromer blood group phenotype Blood group phenotype Fy(a-b-) phenotype Gene re-arrangement, B lymphocyte, light chain Blood group A>1< I phenotype K+ phenotype**
isa	Laboratory test
ISPRIMITIVE	1
Semantic_Type	Laboratory Procedure
SNOMEDID	P3-0006A
SYNONYM FN	Genetic test (procedure)
TUI	T059
UMLS_CUI	C0679560

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/CSP/1254-8491	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/4009-0042	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICPC2P/A38003	ICPC-2 PLUS	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICPC2P/A38003	ICPC-2 PLUS	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D005820	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/1262-4020	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://www.w3.org/2001/sw/hcls/ns/transmed/TMO_0219	Translational Medicine Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T262	MedlinePlus Health Topics	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/4000-0190	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/4001-0050	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0679560	skos:closeMatch	loom	04/02/13	View Notes

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