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55446002: Genetic mutation (finding)

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

Descriptions:

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

23 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 Procedure false Inferred relationship Some
Genetic mutation Interprets Genetic test true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Paternally inherited SDHD gene mutation Is a True Genetic mutation Inferred relationship Some
SDHB gene mutation Is a True Genetic mutation Inferred relationship Some
SDHA gene mutation Is a True Genetic mutation Inferred relationship Some
SDHC gene mutation Is a True Genetic mutation Inferred relationship Some
Maternally inherited SDHD gene mutation Is a True Genetic mutation Inferred relationship Some
TMEM127 gene mutation Is a True Genetic mutation Inferred relationship Some
Maternally inherited SDHAF2 gene mutation Is a True Genetic mutation Inferred relationship Some
FH gene mutation Is a True Genetic mutation Inferred relationship Some
Paternally inherited SDHAF2 gene mutation Is a True Genetic mutation Inferred relationship Some
Maternally inherited MAX gene mutation Is a True Genetic mutation Inferred relationship Some
Paternally inherited MAX gene mutation Is a True Genetic mutation Inferred relationship Some
AIP gene mutation Is a True Genetic mutation Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency 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 Due to True Genetic mutation Inferred relationship Some 4
Tumour mutational burden Is a True Genetic mutation Inferred relationship Some
Somatic mutation Is a True Genetic mutation Inferred relationship Some
Temperature-sensitive mutation Is a True Genetic mutation Inferred relationship Some
BRAF V600E mutation Is a True Genetic mutation Inferred relationship Some
Mitochondrial mutation 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 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 True Genetic mutation Inferred relationship Some 1
Syndromic X-linked intellectual disability due to JARID1C mutation Due to False Genetic mutation Inferred relationship Some 1
Family history of genetic mutation for Lynch syndrome Associated finding True Genetic mutation Inferred relationship Some 1
Proteus syndrome Is a False Genetic mutation Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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