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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
300018016 Genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
300019012 Genetic observations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
579053017 Genetic finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
300018016 Genetic finding en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
300018016 Genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
300019012 Genetic observations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
300019012 Genetic observations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
579053017 Genetic finding (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
579053017 Genetic finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4740851000241114 constatation concernant un statut génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4740851000241114 constatation concernant un statut génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

439 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 false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic finding Interprets Laboratory test false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic finding Finding method Procedure false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic finding Is a Evaluation finding true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic finding Interprets Genetic test (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Genetic transcription (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Barr body present, nuclear sex female Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Barr body absent, nuclear sex male Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Barr body, more than one present per cell Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic translation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Extra chromosomal inheritance (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Allotype Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Finding related to molecular sequence data Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Post-translational genetic ribonucleic acid processing Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Normal genetic findings (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Reading-frame-shift mutation Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Frame-shift mutation Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Suppressor mutation (finding) Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Nonsense mutation Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Alteration of genetic material Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Mitotic alteration Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Increased cell mitotic activity Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Decreased cell mitotic activity Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Mitotic arrest (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Meiotic alteration Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene amplification Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic linkage equilibrium Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene dosage compensation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic mosaic (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Regulatory sequence Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Homozygote Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Silent alleles (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic transduction Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic non disjunction (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Sister chromatid exchange Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
F>2< generation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Proposita Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal inheritance Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic crossing over Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic sequence homology Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic dosage effect Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic position effect Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic linkage disequilibrium (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Molecular sequence data Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene re-arrangement Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Multiple alleles (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
F>1< generation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Hybrid vigor Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic predisposition Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic polymorphism Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic selection Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic transactivation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic replication Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic mutation (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic independent segregation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene frequency Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Logarithm of the odds score (observable entity) Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Allelic exclusion Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic inversion Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Lysogeny (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic transformation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic variation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Propositus Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Homology region (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic transfection Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic behavior Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Phenotype Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic recombination (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Hybridization Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic enhancer element Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Consanguinity Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene template Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Proband Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Synteny Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Gene expression Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic alleles Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Finding of phenotype (finding) Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Risk identification: genetic Has focus False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
DNA studies Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Abnormal chromosomal and genetic finding on antenatal screening of mother (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic anomaly of leukocyte Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetics education, guidance, counseling Has focus True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic evaluation case management (procedure) Has focus True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetics evaluation surveillance (regime/therapy) Has focus True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept) 1
Positive genetic finding Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic finding not detected Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Point mutation (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome microdeletion (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Aromatase excess syndrome (disorder) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic susceptibility to genetic disorder (finding) Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Genetic susceptibility to cancer (finding) Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2D6 normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2D6 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
UGT1A1 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
UGT1A1 normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
TPMT poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
TPMT intermediate metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
TPMT normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Dihydropyrimidine dehydrogenase poor metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
DPYD intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
DPYD normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2C9 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)

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