loading...| Preferred Name |
Cystathionine beta-synthase deficiency |
|
| Synonyms |
Deficiency of serine sulfhydrase |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/24308003 |
|
| Active |
1 |
|
| altLabel |
Deficiency of serine sulfhydrase Cystathionine beta-synthase deficiency (disorder) Deficiency of beta-thionase CBS deficiency Deficiency of serine sulphydrase Deficiency of methylcysteine synthase |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUA9j |
|
| cui |
C0751202 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| notation |
24308003 |
|
| Occurs in | ||
| prefLabel |
Cystathionine beta-synthase deficiency |
|
| Subset member |
447562003~MAPADVICE~ALWAYS E72.1 447562003~MAPTARGET~E72.1 447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPTARGET~E72.11 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS E72.11 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~XUA9j |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/129456006 |