loading...| Preferred Name |
Biotinidase deficiency |
|
| Synonyms |
Late-onset multiple carboxylase deficiency |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/8808004 |
|
| Active |
1 |
|
| altLabel |
Late-onset multiple carboxylase deficiency Biotinidase deficiency (disorder) Deficiency of biotinidase Juvenile multiple carboxylase deficiency Multiple carboxylase deficiency - late onset |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
X40TG |
|
| cui |
C1854698 C0220754 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| notation |
8808004 |
|
| Occurs in | ||
| prefLabel |
Biotinidase deficiency |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 360369003 | Holocarboxylase synthase deficiency | 6011000124106~MAPGROUP~1 6011000124106~MAPTARGET~D81.818 447562003~MAPTARGET~E53.8 447562003~MAPADVICE~ALWAYS E53.8 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS D81.810 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPADVICE~IF HOLOCARBOXYLASE SYNTHASE DEFICIENCY CHOOSE D81.818 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~D81.810 6011000124106~MAPRULE~TRUE 900000000000497000~MAPTARGET~X40TG 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |