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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/27718001
http://purl.bioontology.org/ontology/SNOMEDCT/27718001
|
|---|---|
| Preferred Name | Maple syrup urine disease |
| Synonyms |
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)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Maple syrup urine disease
|
|---|---|
| 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)
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|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Effective time | 20020131
|
| cui | C0024776
|
| CTV3ID | C3033
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| notation | 27718001
|
| INACTIVATION INDICATOR | 723277005
|
| type | |
| subClassOf | |
| 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
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|---|---|---|---|---|
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