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55446002: Genetic mutation (finding)

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

Descriptions:

Id Description Lang Type Status Case? Module
92181010 Genetic mutation en Synonym Active Entire term case insensitive SNOMED CT core module
793806018 Genetic mutation (finding) en Fully specified name Active Entire term case insensitive SNOMED CT core module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic mutation Is a Genetic finding true Inferred relationship Existential restriction modifier
Genetic mutation Interprets Laboratory test false Inferred relationship Existential restriction modifier
Genetic mutation Finding method Procedure false Inferred relationship Existential restriction modifier
Genetic mutation Interprets Genetic test true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Somatic mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Temperature-sensitive mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Mitochondrial mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Frame-shift mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Nonsense mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Reading-frame-shift mutation Is a False Genetic mutation Inferred relationship Existential restriction modifier
Suppressor mutation Is a True Genetic mutation Inferred relationship Existential restriction modifier
Family history of gene mutation Associated finding True Genetic mutation Inferred relationship Existential restriction modifier 1
Acute respiratory distress in newborn with surfactant disorder Due to True Genetic mutation Inferred relationship Existential restriction modifier 5
Genetic disorder of surfactant dysfunction Due to True Genetic mutation Inferred relationship Existential restriction modifier 2
Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency Due to True Genetic mutation Inferred relationship Existential restriction modifier 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Due to False Genetic mutation Inferred relationship Existential restriction modifier 1
Family history of genetic mutation for hereditary nonpolyposis colon cancer Associated finding True Genetic mutation Inferred relationship Existential restriction modifier 1
Proteus syndrome Is a False Genetic mutation Inferred relationship Existential restriction modifier
Chronic respiratory distress with surfactant metabolism deficiency Due to True Genetic mutation Inferred relationship Existential restriction modifier 4
Male infertility with oligozoospermia due to single gene mutation Due to True Genetic mutation Inferred relationship Existential restriction modifier 3
Male infertility with azoospermia due to single gene mutation Due to True Genetic mutation Inferred relationship Existential restriction modifier 4
Tumor mutational burden Is a True Genetic mutation Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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