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55446002: Genetic mutation (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
92181010 Genetic mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
793806018 Genetic mutation (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

19 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic mutation Is a Genetic finding true Inferred relationship Some
Genetic mutation Interprets Laboratory test false Inferred relationship Some
Genetic mutation Finding method (attribute) Procedure false Inferred relationship Some
Genetic mutation Interprets Genetic test (procedure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Somatic mutation Is a True Genetic mutation Inferred relationship Some
Temperature-sensitive mutation (finding) Is a True Genetic mutation Inferred relationship Some
Mitochondrial mutation (finding) Is a True Genetic mutation Inferred relationship Some
Frame-shift mutation Is a True Genetic mutation Inferred relationship Some
Nonsense mutation Is a True Genetic mutation Inferred relationship Some
Reading-frame-shift mutation Is a False Genetic mutation Inferred relationship Some
Suppressor mutation Is a True Genetic mutation Inferred relationship Some
Family history of gene mutation (situation) Associated finding True Genetic mutation Inferred relationship Some 1
Acute respiratory distress in newborn with surfactant disorder Due to True Genetic mutation Inferred relationship Some 5
Genetic disorder of surfactant dysfunction Due to True Genetic mutation Inferred relationship Some 2
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Due to False Genetic mutation Inferred relationship Some 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Due to False Genetic mutation Inferred relationship Some 1
Family history of genetic mutation for hereditary nonpolyposis colon cancer (situation) Associated finding True Genetic mutation Inferred relationship Some 1
Proteus syndrome Is a False Genetic mutation Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Due to True Genetic mutation Inferred relationship Some 4
Male infertility with oligozoospermia due to single gene mutation Due to True Genetic mutation Inferred relationship Some 3
Male infertility with azoospermia due to single gene mutation (disorder) Due to True Genetic mutation Inferred relationship Some 4
Tumor mutational burden (finding) Is a True Genetic mutation Inferred relationship Some
Splice site mutation Is a True Genetic mutation Inferred relationship Some
Missense mutation Is a True Genetic mutation Inferred relationship Some
Synonymous single nucleotide substitution Is a True Genetic mutation Inferred relationship Some
Structural variant (finding) Is a True Genetic mutation Inferred relationship Some
Small deletion Is a True Genetic mutation Inferred relationship Some
Small insertion Is a True Genetic mutation Inferred relationship Some
Mutation of promoter (finding) Is a True Genetic mutation Inferred relationship Some
UTR (untranslated region) mutation Is a True Genetic mutation Inferred relationship Some

This concept is not in any reference sets

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