Preferred Name |
Crigler-Najjar syndrome, type I |
|
Synonyms |
Deficiency of glucuronosyltransferase |
|
ID |
http://purl.bioontology.org/ontology/SNOMEDCT/8933000 |
|
Active |
1 |
|
altLabel |
Deficiency of glucuronosyltransferase Bilirubin glucuronosyltransferase deficiency Glucuronyltransferase deficiency Crigler-Najjar type 1 Crigler-Najjar syndrome, type I (disorder) Bilirubin UDP glucuronyl transferase deficiency UDP glucuronyl transferase deficiency Crigler-Najjar syndrome type I |
|
CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
CTV3ID |
X307h |
|
cui |
C0010324 |
|
DEFINITION STATUS ID |
900000000000074008 |
|
Effective time |
20020131 |
|
Has finding site | ||
INACTIVATION INDICATOR |
900000000000494007 |
|
notation |
8933000 |
|
Occurs in | ||
prefLabel |
Crigler-Najjar syndrome, type I |
|
Subset member |
447562003~MAPRULE~TRUE 900000000000490003~VALUEID~900000000000494007 900000000000531004~TARGETCOMPONENT~28259009 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~E80.5 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS E80.5 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPADVICE~ALWAYS E80.5 447562003~MAPCATEGORYID~447637006 447562003~MAPTARGET~E80.5 900000000000497000~MAPTARGET~X307h 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
tui |
T047 |
|
Type ID |
900000000000003001 900000000000013009 |
|
subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/28259009 |