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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
4571231000241111 mutation génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 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 (finding) Is a True Genetic mutation Inferred relationship Some
Temperature-sensitive mutation 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
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Due to False Genetic mutation Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems. Due to False Genetic mutation Inferred relationship Some 1
Family history of genetic mutation for hereditary nonpolyposis colon cancer (situation) Associated finding False Genetic mutation Inferred relationship Some 1
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Is a False Genetic mutation Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. Due to True Genetic mutation Inferred relationship Some 4
A rare genetic male infertility due to oligozoospermia (number of sperm in the ejaculate inferior to 15 million/mL) resulting from a mutation in a single gene known to cause oligozoospermia. Sperm morphology may be normal. Due to True Genetic mutation Inferred relationship Some 3
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal. 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
Genetic variant with alterations typically involving more than 50 base pairs. Is a True Genetic mutation Inferred relationship Some
A deletion typically less than 50 base pairs on a single locus. Is a True Genetic mutation Inferred relationship Some
An insertion typically less than 50 base pairs on a single locus. 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
Hereditary non-polyposis colon cancer gene mutation detected (finding) Is a True Genetic mutation Inferred relationship Some
Lynch syndrome gene mutation detected (finding) Is a True Genetic mutation Inferred relationship Some

This concept is not in any reference sets

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