loading...| Preferred Name | Cystathioninuria | |
| Synonyms |
CTH - Cystathioninuria Cystathioninuria (disorder) Cystathionine gamma-lyase deficiency syndrome |
|
| Definitions |
A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/13003007 |
|
| Active |
1 |
|
| altLabel |
CTH - Cystathioninuria Cystathioninuria (disorder) Cystathionine gamma-lyase deficiency syndrome |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
XU7Qj |
|
| cui |
C0220993 |
|
| definition |
A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Due to | ||
| Effective time |
20020131 |
|
| notation |
13003007 |
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| Occurs in | ||
| prefLabel |
Cystathioninuria |
|
| Subset member |
447562003~MAPADVICE~ALWAYS E72.1 447562003~MAPTARGET~E72.1 447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~E72.19 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XU7Qj 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS E72.19 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 |