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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

415 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic finding est un(e) (attribut) constatation génétique, moléculaire et/ou cellulaire false Inferred relationship Some
Genetic finding interprète (attribut) analyse de laboratoire false Inferred relationship Some
Genetic finding méthode de constatation (attribut) Procedure false Inferred relationship Some
Genetic finding est un(e) (attribut) Evaluation finding true Inferred relationship Some
Genetic finding interprète (attribut) Genetic test (procedure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Genetic variation est un(e) (attribut) True Genetic finding Inferred relationship Some
Propositus est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic anomaly of leucocyte est un(e) (attribut) True Genetic finding Inferred relationship Some
Homology region est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic transfection est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic behavior est un(e) (attribut) True Genetic finding Inferred relationship Some
Phenotype est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic recombination est un(e) (attribut) True Genetic finding Inferred relationship Some
Hybridization est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic enhancer element est un(e) (attribut) True Genetic finding Inferred relationship Some
Consanguinity est un(e) (attribut) True Genetic finding Inferred relationship Some
Gene template est un(e) (attribut) True Genetic finding Inferred relationship Some
Proband est un(e) (attribut) True Genetic finding Inferred relationship Some
Synteny est un(e) (attribut) True Genetic finding Inferred relationship Some
Gene expression est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic alleles est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetics education, guidance, counseling (procedure) a pour objet (attribut) True Genetic finding Inferred relationship Some 1
Genetic evaluation case management (procedure) a pour objet (attribut) True Genetic finding Inferred relationship Some 1
Genetics evaluation surveillance (regime/therapy) a pour objet (attribut) True Genetic finding Inferred relationship Some 1
Positive genetic finding (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Negative genetic finding (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Phenotype - finding est un(e) (attribut) False Genetic finding Inferred relationship Some
Point mutation (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Chromosome microdeletion (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Barr body present, nuclear sex female est un(e) (attribut) True Genetic finding Inferred relationship Some
Barr body absent, nuclear sex male est un(e) (attribut) True Genetic finding Inferred relationship Some
Barr body, more than one present per cell est un(e) (attribut) True Genetic finding Inferred relationship Some
syndrome d'excès d'aromatase est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic translation est un(e) (attribut) True Genetic finding Inferred relationship Some
Extra chromosomal inheritance est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic susceptibility to genetic disorder (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Genetic susceptibility to cancer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
UGT1A1 poor metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
UGT1A1 normal metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Thiopurine S-methyltransferase poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
TPMT intermediate metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
TPMT normal metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Dihydropyrimidine dehydrogenase poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
DPYD intermediate metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Dihydropyrimidine dehydrogenase normal metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
CYP2C9 intermediate metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Solute carrier organic anion transporter family member 1B1 poor function (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
SLCO1B1 decreased function est un(e) (attribut) True Genetic finding Inferred relationship Some
SLCO1B1 normal function est un(e) (attribut) True Genetic finding Inferred relationship Some
Solute carrier organic anion transporter family member 1B1 increased function (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
CYP2B6 poor metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 intermediate metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
CYP2C19 intermediate metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
CYP2C19 normal metabolizer est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) est un(e) (attribut) True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 extensive metabolizer (finding) est un(e) (attribut) False Genetic finding Inferred relationship Some

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Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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