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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
Cytochrome P450 family 2 subfamily C member 9 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier organic anion transporter family member 1B1 poor function (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
SLCO1B1 decreased function Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
SLCO1B1 normal function Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier organic anion transporter family member 1B1 increased function (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2B6 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2B6 intermediate metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2C19 poor metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2C19 intermediate metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2C19 normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
CYP2C19 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 extensive metabolizer Is a False Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
NUDT15 normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
NUDT15 intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Nudix hydrolase 15 possible intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Nudix hydrolase 15 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
NUDT15 deficiency Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 low normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 rapid metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 high intermediate metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K epoxide reductase complex 1 normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 9 low normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 19 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily C member 19 low normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 high intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 low normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 rapid metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 normal metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 rapid metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 intermediate metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 rapid metaboliser Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
N-acetyltransferase 2 slow acetylator Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Post-transcriptional genetic ribonucleic acid processing (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Human leukocyte antigen B27 not detected (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
Triplicated alpha globin gene Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
ATP binding cassette subfamily G member 2 normal function (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
ATP binding cassette subfamily G member 2 poor function (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)
ATP binding cassette subfamily G member 2 decreased function (finding) Is a True Genetic finding Inferred relationship Existential restriction modifier (core metadata concept)

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