SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Genetic disease

Synonyms

Genetic disease (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/782964007

Active

1

altLabel

Genetic disease (disorder)

Associated with

http://purl.bioontology.org/ontology/SNOMEDCT/237611007

http://purl.bioontology.org/ontology/SNOMEDCT/237619009

http://purl.bioontology.org/ontology/SNOMEDCT/237617006

http://purl.bioontology.org/ontology/SNOMEDCT/1197592001

http://purl.bioontology.org/ontology/SNOMEDCT/783722008

http://purl.bioontology.org/ontology/SNOMEDCT/816067005

http://purl.bioontology.org/ontology/SNOMEDCT/1310004

http://purl.bioontology.org/ontology/SNOMEDCT/33559001

http://purl.bioontology.org/ontology/SNOMEDCT/237612000

http://purl.bioontology.org/ontology/SNOMEDCT/5969009

CASE SIGNIFICANCE ID

900000000000448009

Cause of

http://purl.bioontology.org/ontology/SNOMEDCT/1259476008

http://purl.bioontology.org/ontology/SNOMEDCT/734022008

http://purl.bioontology.org/ontology/SNOMEDCT/1177176009

http://purl.bioontology.org/ontology/SNOMEDCT/1148858008

CTV3ID

XVA4N

cui

C0019247

DEFINITION STATUS ID

900000000000074008

Effective time

20190731

notation

782964007

prefLabel

Genetic disease

Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

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

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~ALWAYS Q99.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

447562003~MAPTARGET~

447562003~MAPPRIORITY~1

900000000000497000~MAPTARGET~XVA4N

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

6011000124106~MAPTARGET~Q99.9

447562003~MAPCATEGORYID~447638001

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/64572001

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP62869-0 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10061205 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10019873 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/782964007 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1 LOINC CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000256156 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10019873 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/Xa4hE RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10019873 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/32895009 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10061205 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10061205 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D030342 MESH CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/LNC/MTHU025721 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DF-00180 SNMI CUI
http://purl.obolibrary.org/obo/DOID_630 DOID LOOM
http://purl.obolibrary.org/obo/DOID_630 HTN LOOM
http://purl.obolibrary.org/obo/DOID_630 RBO LOOM
http://purl.obolibrary.org/obo/DOID_630 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_630 INBANCIDO LOOM
http://purl.obolibrary.org/obo/DOID_630 DTO LOOM
http://purl.obolibrary.org/obo/DOID_630 BAO LOOM
http://purl.obolibrary.org/obo/DOID_630 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_630 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_630 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_630 CIDO LOOM
http://purl.obolibrary.org/obo/DOID_630 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_630 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_630 NATPRO LOOM
http://www.ifomis.org/hdot/HDOT_CORE_003 VDOT LOOM
http://www.shojaee.com/shr/shr.owl#Genetic_Disease SHR LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019247 OCHV LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#genetic_disease NRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease EPISEM LOOM