loading...| Preferred Name |
Deficiency of fumarylacetoacetase |
|
| Synonyms |
Deficiency of beta-diketonase Deficiency of fumarylacetoacetase (disorder) |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/124536006 |
|
| Active |
1 |
|
| altLabel |
Deficiency of beta-diketonase Deficiency of fumarylacetoacetase (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| Cause of | ||
| CTV3ID |
XU6EV |
|
| cui |
C0268490 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| notation |
124536006 |
|
| prefLabel |
Deficiency of fumarylacetoacetase |
|
| Subset member |
447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XU6EV 6011000124106~MAPRULE~IFA 52452006 | Fumarylacetoacetase deficiency, chronic type | 6011000124106~MAPGROUP~1 447562003~MAPTARGET~E88.0 447562003~MAPADVICE~ALWAYS E88.0 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 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~MAPRULE~OTHERWISE TRUE 6011000124106~MAPADVICE~IF FUMARYLACETOACETASE DEFICIENCY, CHRONIC TYPE CHOOSE E70.21 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~ALWAYS E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~E88.89 6011000124106~MAPRULE~IFA 52452006 | Fumarylacetoacetase deficiency, chronic type (disorder) | 6011000124106~MAPTARGET~E70.21 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |