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 | ||
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 |