SNOMED CT

Last uploaded: January 31, 2024

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Preferred Name	Jervell and Lange-Nielsen syndrome
Synonyms	Jervell and Lange-Nielsen syndrome (disorder)
ID	http://purl.bioontology.org/ontology/SNOMEDCT/373905003
Active	1
altLabel	Jervell and Lange-Nielsen syndrome (disorder) Cardio-auditory syndrome
CASE SIGNIFICANCE ID	900000000000020002 900000000000448009 900000000000017005
CTV3ID	XUWOu
cui	C0022387
DEFINITION STATUS ID	900000000000074008
Effective time	20020731
Has associated morphology	http://purl.bioontology.org/ontology/SNOMEDCT/49755003
Has finding site	http://purl.bioontology.org/ontology/SNOMEDCT/91159003 http://purl.bioontology.org/ontology/SNOMEDCT/24964005
Has pathological process	http://purl.bioontology.org/ontology/SNOMEDCT/308490002
interprets	http://purl.bioontology.org/ontology/SNOMEDCT/47078008
notation	373905003
Occurs in	http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel	Jervell and Lange-Nielsen syndrome
Subset member	447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUWOu 6011000124106~MAPGROUP~1 447562003~MAPTARGET~I49.8 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS I45.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPTARGET~I45.8 447562003~MAPADVICE~ALWAYS I49.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~I45.81 6011000124106~MAPADVICE~ALWAYS I45.81
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SNOMEDCT/442917000 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/13213009 http://purl.bioontology.org/ontology/SNOMEDCT/700453005 http://purl.bioontology.org/ontology/SNOMEDCT/315027009 http://purl.bioontology.org/ontology/SNOMEDCT/362991006

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/G56y3	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/DA-95420	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/220400	OMIM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011078	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D029593	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D029593	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/373905003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10057936	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10057936	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10057936	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0002441	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0002441	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_90647	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Jervell_and_Lange_Nielsen_Syndrome	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84793	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C84793	BERO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12056	HRDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/G56y300	RCTV2	LOOM
http://purl.obolibrary.org/obo/MONDO_0002441	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0002441	DOVES	LOOM
http://purl.bioontology.org/ontology/RCD/G56y3	RCD	LOOM
http://purl.obolibrary.org/obo/HIO_0000020	HIO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057936	MEDDRA	LOOM
http://www.gamuts.net/entity#Jervell_and_Lange_Nielsen_syndrome	GAMUTS	LOOM
http://www.gamuts.net/entity#Jervell_and_Lange_Nielsen_syndrome	GAMUTS	REST