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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
Genetic variation Is a True Genetic finding Inferred relationship Some
Propositus Is a True Genetic finding Inferred relationship Some
Genetic anomaly of leucocyte 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 behaviour 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
Hybridisation 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
Genetics education, guidance, counselling Has focus True Genetic finding Inferred relationship Some 1
Genetic evaluation case management Has focus True Genetic finding Inferred relationship Some 1
Genetics evaluation surveillance Has focus True Genetic finding Inferred relationship Some 1
Positive genetic finding Is a True Genetic finding Inferred relationship Some
Negative genetic finding Is a True Genetic finding Inferred relationship Some
Phenotype - finding Is a False Genetic finding Inferred relationship Some
Point mutation Is a True Genetic finding Inferred relationship Some
Chromosome microdeletion 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
Aromatase excess syndrome 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
Genetic susceptibility to genetic disorder Is a True Genetic finding Inferred relationship Some
Genetic susceptibility to cancer Is a True Genetic finding Inferred relationship Some
CYP2D6 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
UGT1A1 poor metaboliser Is a True Genetic finding Inferred relationship Some
UGT1A1 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
UGT1A1 normal metaboliser Is a True Genetic finding Inferred relationship Some
Thiopurine S-methyltransferase poor metaboliser Is a True Genetic finding Inferred relationship Some
Thiopurine S-methyltransferase intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Thiopurine S-methyltransferase normal metaboliser Is a True Genetic finding Inferred relationship Some
DPYD poor metaboliser Is a True Genetic finding Inferred relationship Some
DPYD intermediate metaboliser Is a True Genetic finding Inferred relationship Some
DPYD normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C9 normal metaboliser Is a True Genetic finding Inferred relationship Some
SLCO1B1 poor function Is a True Genetic finding Inferred relationship Some
SLCO1B1 decreased function Is a True Genetic finding Inferred relationship Some
SLCO1B1 normal function Is a True Genetic finding Inferred relationship Some
SLCO1B1 increased function Is a True Genetic finding Inferred relationship Some
CYP2B6 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP2B6 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2B6 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP2C19 ultra-rapid metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 poor metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 intermediate metaboliser Is a True Genetic finding Inferred relationship Some
CYP3A5 normal metaboliser Is a True Genetic finding Inferred relationship Some
CYP2D6 extensive metaboliser Is a False 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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