SNOMED CT

Last uploaded: April 29, 2019
Preferred Name

Genetic mutation

Synonyms

Genetic mutation (finding)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/55446002

Active

1

altLabel

Genetic mutation (finding)

Associated finding of

http://purl.bioontology.org/ontology/SNOMEDCT/1099601000119106

http://purl.bioontology.org/ontology/SNOMEDCT/138701000119105

CASE SIGNIFICANCE ID

900000000000448009

Cause of

http://purl.bioontology.org/ontology/SNOMEDCT/719161008

http://purl.bioontology.org/ontology/SNOMEDCT/328641000119109

http://purl.bioontology.org/ontology/SNOMEDCT/718107000

http://purl.bioontology.org/ontology/SNOMEDCT/707541006

CTV3ID

XUGNo

cui

C0026882

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

interprets

http://purl.bioontology.org/ontology/SNOMEDCT/405824009

notation

55446002

prefLabel

Genetic mutation

Subset member

6011000124106~MAPPRIORITY~1

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPADVICE~IF MITOCHONDRIAL MUTATION CHOOSE E88.40 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000509007~ACCEPTABILITYID~900000000000548007

447562003~MAPGROUP~1

6011000124106~MAPTARGET~E88.40

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPRULE~TRUE

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPGROUP~1

6011000124106~MAPRULE~IFA 430934002 | Mitochondrial mutation (finding) |

6011000124106~MAPCATEGORYID~447639009

447562003~MAPCATEGORYID~447638001

6011000124106~MAPTARGET~R89.8

6011000124106~CORRELATIONID~447561005

447562003~MAPTARGET~

447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPADVICE~ALWAYS R89.8

447562003~MAPRULE~TRUE

447562003~MAPPRIORITY~1

447562003~CORRELATIONID~447561005

900000000000497000~MAPTARGET~XUGNo

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~ALWAYS R89.8 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

tui

T045

Type ID

900000000000013009

900000000000003001

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/106221001

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Delete Mapping To Ontology Source
http://www.case.edu/EpSO.owl#GeneticMutation EPSO LOOM
http://www.ifomis.org/acgt/1.0#GeneticMutation ACGT-MO LOOM
http://purl.bioontology.org/ontology/CSP/1259-4334 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LP32514-9 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/F-E1950 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/F-E1950 SNMI LOOM
http://purl.bioontology.org/ontology/CSP/1259-7796 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D009154 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP21223-0 LOINC CUI
http://www.owl-ontologies.com/OntologyXCT.owl#GeneticMutation CTX LOOM