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106221001: Genetic finding (finding)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
300018016 Genetic finding en Synonym Active Case insensitive SNOMED CT core
300019012 Genetic observations en Synonym Active Case insensitive SNOMED CT core
579053017 Genetic finding (finding) en Fully specified name Active Case insensitive SNOMED CT core


438 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 Some
Genetic finding Interprets Laboratory test false Inferred relationship Some
Genetic finding Finding method Procedure false Inferred relationship Some
Genetic finding Is a Evaluation finding true Inferred relationship Some
Genetic finding Interprets Genetic test true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
CYP2B6 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP2B6 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 normal metaboliser Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 possible intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 poor metaboliser Is a True Genetic finding Inferred relationship Some
Allotype Is a True Genetic finding Inferred relationship Some
NUDT15 deficiency Is a True Genetic finding Inferred relationship Some
VKORC1 low normal metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 rapid metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 poor metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
VKORC1 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP1A2 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A4 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 low normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
N-acetyltransferase 2 slow acetylator 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 RNA processing Is a False Genetic finding Inferred relationship Some
Cytochrome P450 family 4 subfamily F member 2 poor metaboliser Is a True Genetic finding Inferred relationship Some
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Is a True Genetic finding Inferred relationship Some
Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation Is a True Genetic finding Inferred relationship Some
Post-transcriptional genetic ribonucleic acid processing Is a True 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 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 Is a True Genetic finding Inferred relationship Some
Genetic transcription 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
Risk identification: genetic Has focus False Genetic finding Inferred relationship Some
DNA studies Is a False 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 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
Abnormal chromosomal and genetic finding on antenatal screening of mother 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

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Reference Sets

Clinical finding grouper exclusion reference set

Australian dialect reference set

Description inactivation indicator reference set

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