106221001: Genetic finding (finding)

SNOMED CT Concept\Clinical finding (finding)\Procedure related finding\Evaluation finding\Genetic finding

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

Descriptions:

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	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	Is a	True	Genetic finding	Inferred relationship	Some
Post-translational genetic ribonucleic acid processing	Is a	False	Genetic finding	Inferred relationship	Some
Normal genetic findings	Is a	True	Genetic finding	Inferred relationship	Some
Reading-frame-shift 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	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	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
Genetic finding detected	Is a	True	Genetic finding	Inferred relationship	Some
Genetic finding not detected	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	False	Genetic finding	Inferred relationship	Some
Genetic susceptibility to cancer (finding)	Is a	False	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

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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
5707651000172118	constatation génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
8968951000172111	constatation concernant un statut génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9013731000172117	observation génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
3662111000172111	genetische bevinding	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)