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106221001: Genetic finding (finding)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
300018016 Genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
300019012 Genetic observations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
579053017 Genetic finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2488641000005114 fund vedr. gener da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

411 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic finding Is a Genetic, molecular AND/OR cellular finding (navigational concept) false Inferred relationship Some
Genetic finding Interprets Laboratory test false Inferred relationship Some
Genetic finding Finding method (attribute) Procedure false Inferred relationship Some
Genetic finding Is a Evaluation finding true Inferred relationship Some
Genetic finding Interprets Genetic test (procedure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Genetic transcription Is a True Genetic finding Inferred relationship Some
Barr body present, nuclear sex female Is a True Genetic finding Inferred relationship Some
Barr body absent, nuclear sex male Is a True Genetic finding Inferred relationship Some
Barr body, more than one present per cell Is a True Genetic finding Inferred relationship Some
Genetic translation Is a True Genetic finding Inferred relationship Some
Extra chromosomal inheritance Is a True Genetic finding Inferred relationship Some
Allotype Is a True Genetic finding Inferred relationship Some
Finding related to molecular sequence data (finding) Is a True Genetic finding Inferred relationship Some
Posttranslationel genetisk RNA-processering Is a False Genetic finding Inferred relationship Some
Normal genetic findings Is a True Genetic finding Inferred relationship Some
Reading-frameshift-mutation Is a False Genetic finding Inferred relationship Some
Frame-shift mutation Is a False Genetic finding Inferred relationship Some
Suppressor mutation Is a False Genetic finding Inferred relationship Some
Nonsense mutation Is a False Genetic finding Inferred relationship Some
Alteration of genetic material Is a True Genetic finding Inferred relationship Some
Mitotic alteration Is a True Genetic finding Inferred relationship Some
Increased cell mitotic activity Is a True Genetic finding Inferred relationship Some
Decreased cell mitotic activity Is a True Genetic finding Inferred relationship Some
Mitotic arrest Is a True Genetic finding Inferred relationship Some
Meiotic alteration Is a True Genetic finding Inferred relationship Some
Gene amplification Is a True Genetic finding Inferred relationship Some
Genetic linkage equilibrium Is a True Genetic finding Inferred relationship Some
Gene dosage compensation Is a True Genetic finding Inferred relationship Some
Genetic mosaic Is a True Genetic finding Inferred relationship Some
Regulatory sequence (finding) Is a True Genetic finding Inferred relationship Some
Homozygote Is a True Genetic finding Inferred relationship Some
Silent alleles Is a True Genetic finding Inferred relationship Some
Genetic transduction Is a True Genetic finding Inferred relationship Some
Genetic non disjunction (finding) Is a True Genetic finding Inferred relationship Some
Sister chromatid exchange Is a True Genetic finding Inferred relationship Some
F>2< generation Is a True Genetic finding Inferred relationship Some
Proposita Is a True Genetic finding Inferred relationship Some
Chromosomal inheritance Is a True Genetic finding Inferred relationship Some
Genetic crossing over Is a True Genetic finding Inferred relationship Some
Genetic sequence homology Is a True Genetic finding Inferred relationship Some
Genetic dosage effect Is a True Genetic finding Inferred relationship Some
Genetic position effect Is a True Genetic finding Inferred relationship Some
Genetic linkage disequilibrium Is a True Genetic finding Inferred relationship Some
Molecular sequence data Is a True Genetic finding Inferred relationship Some
Gene re-arrangement (finding) Is a True Genetic finding Inferred relationship Some
Multiple alleles Is a True Genetic finding Inferred relationship Some
F>1< generation Is a True Genetic finding Inferred relationship Some
Hybrid vigor Is a True Genetic finding Inferred relationship Some
Genetic predisposition (finding) Is a True Genetic finding Inferred relationship Some
Genetic polymorphism Is a True Genetic finding Inferred relationship Some
Genetic selection Is a True Genetic finding Inferred relationship Some
Genetic transactivation (finding) Is a True Genetic finding Inferred relationship Some
Genetic replication Is a True Genetic finding Inferred relationship Some
Genetic mutation Is a True Genetic finding Inferred relationship Some
Genetic independent segregation Is a True Genetic finding Inferred relationship Some
Gene frequency Is a True Genetic finding Inferred relationship Some
LOD score Is a False Genetic finding Inferred relationship Some
Allelic exclusion Is a True Genetic finding Inferred relationship Some
Genetic inversion Is a True Genetic finding Inferred relationship Some
Lysogeny Is a True Genetic finding Inferred relationship Some
Genetic transformation Is a True Genetic finding Inferred relationship Some
Genetic variation Is a True Genetic finding Inferred relationship Some
Propositus Is a True Genetic finding Inferred relationship Some
Homology region Is a True Genetic finding Inferred relationship Some
Genetic transfection Is a True Genetic finding Inferred relationship Some
Genetic behavior Is a True Genetic finding Inferred relationship Some
Phenotype Is a True Genetic finding Inferred relationship Some
Genetic recombination Is a True Genetic finding Inferred relationship Some
Hybridization Is a True Genetic finding Inferred relationship Some
Genetic enhancer element Is a True Genetic finding Inferred relationship Some
Consanguinity Is a True Genetic finding Inferred relationship Some
Gene template Is a True Genetic finding Inferred relationship Some
Proband Is a True Genetic finding Inferred relationship Some
Synteny Is a True Genetic finding Inferred relationship Some
Gene expression Is a True Genetic finding Inferred relationship Some
Genetic alleles Is a True Genetic finding Inferred relationship Some
Finding of phenotype (finding) Is a False Genetic finding Inferred relationship Some
Risk identification: genetic Has focus False Genetic finding Inferred relationship Some
DNA studies Is a False Genetic finding Inferred relationship Some
Abnormal chromosomal and genetic finding on antenatal screening of mother Is a True Genetic finding Inferred relationship Some
Genetic anomaly of leucocyte Is a True Genetic finding Inferred relationship Some
Genetics education, guidance, counseling (procedure) Has focus True Genetic finding Inferred relationship Some 1
Genetic evaluation case management (procedure) Has focus True Genetic finding Inferred relationship Some 1
Genetics evaluation surveillance (regime/therapy) Has focus True Genetic finding Inferred relationship Some 1
Positive genetic finding (finding) Is a True Genetic finding Inferred relationship Some
Negative genetic finding (finding) Is a True Genetic finding Inferred relationship Some
Point mutation (finding) Is a True Genetic finding Inferred relationship Some
Chromosome microdeletion (finding) Is a True Genetic finding Inferred relationship Some
Aromatase excess syndrome Is a True Genetic finding Inferred relationship Some
Genetic susceptibility to genetic disorder (finding) Is a True Genetic finding Inferred relationship Some
Genetic susceptibility to cancer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
UGT1A1 poor metabolizer Is a True Genetic finding Inferred relationship Some
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
UGT1A1 normal metabolizer Is a True Genetic finding Inferred relationship Some
Thiopurine S-methyltransferase poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
TPMT intermediate metabolizer Is a True Genetic finding Inferred relationship Some
TPMT normal metabolizer Is a True Genetic finding Inferred relationship Some
Dihydropyrimidine dehydrogenase poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
DPYD intermediate metabolizer Is a True Genetic finding Inferred relationship Some
Dihydropyrimidine dehydrogenase normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
CYP2C9 intermediate metabolizer Is a True Genetic finding Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

GB English

US English

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