SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Maple syrup urine disease

Synonyms

MSUD - maple syrup urine disease

Maple syrup urine disease (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/27718001

Active

1

altLabel

MSUD - maple syrup urine disease

Oxo-acid decarboxylase deficiency

Ketoacidaemia

Branched chain ketoaciduria

Branched chain ketoacid dehydrogenase deficiency

BCKD - branched-chain 2-ketoacid dehydrogenase deficiency

Ketoacid decarboxylase deficiency

Branched-chain alpha-keto acid dehydrogenase deficiency

Ketoacidemia

Maple syrup urine disease (disorder)

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

CTV3ID

C3033

cui

C0024776

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

INACTIVATION INDICATOR

723277005

notation

27718001

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Maple syrup urine disease

Subset member

447562003~MAPADVICE~ALWAYS E71.0

447562003~MAPRULE~TRUE

900000000000490003~VALUEID~723277005

900000000000497000~MAPTARGET~C3033

6011000124106~MAPGROUP~1

447562003~MAPTARGET~E71.0

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPPRIORITY~1

6011000124106~MAPTARGET~E71.0

6011000124106~CORRELATIONID~447561005

6011000124106~MAPADVICE~ALWAYS E71.0

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/116020001

http://purl.bioontology.org/ontology/SNOMEDCT/85995004

http://purl.bioontology.org/ontology/SNOMEDCT/78548001

http://purl.bioontology.org/ontology/SNOMEDCT/86095007

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LA21168-2 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU021578 LOINC CUI
http://purl.bioontology.org/ontology/ICD10/E71.0 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10026817 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001942 NDFRT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024776 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10026818 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP56746-8 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/27718001 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/248600 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10026817 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-1063 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D008375 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/C3033 RCD CUI
http://purl.bioontology.org/ontology/MESH/D008375 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10026818 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10026817 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10026818 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-B0100 SNMI CUI
http://purl.obolibrary.org/obo/MONDO_0009563 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_9269 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.520 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_511 ORDO LOOM
http://purl.bioontology.org/ontology/LNC/LA21168-2 LOINC LOOM
http://purl.jp/bio/4/id/200906010796288126 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.520 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021578 LOINC LOOM
http://purl.obolibrary.org/obo/OMIT_0009446 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008375 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9269 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10/E71.0 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024776 MEDLINEPLUS LOOM
http://www.gamuts.net/entity#maple_syrup_urine_disease GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038500 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7741 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15092 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.608 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Maple_Syrup_Urine_Disease CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10026818 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.520 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP56746-8 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_9269 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9269 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9269 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9269 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9269 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9269 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_248600 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.608 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease EPISEM LOOM
http://purl.bioontology.org/ontology/OMIM/248600 OMIM LOOM
http://purl.bioontology.org/ontology/CSP/1849-1063 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024776 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/C3033 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D008375 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C303300 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.0 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C34806 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_708 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.520 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34806 NCIT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Maple_Syrup_Urine_Disease PEDTERM LOOM
http://www.gamuts.net/entity#maple_syrup_urine_disease GAMUTS REST