loading...| Preferred Name |
Clinical manifestation of enzyme deficiency |
|
| Synonyms |
Clinical manifestation of enzyme deficiency (disorder) |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/410053003 |
|
| Active |
1 |
|
| altLabel |
Clinical manifestation of enzyme deficiency (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XUbRE |
|
| cui |
C1444206 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Due to | ||
| Effective time |
20040731 |
|
| notation |
410053003 |
|
| prefLabel |
Clinical manifestation of enzyme deficiency |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 410052008 | Carnosinemia | 6011000124106~MAPRULE~IFA 314467007 | Gyrate atrophy (disorder) | 6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 410058007 | Histidinemia | 6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA DUE TO PROLINE DIPEPTIDASE DEFICIENCY CHOOSE E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPTARGET~E70.89 447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPRULE~IFA 410051001 | Carnosinuria | 6011000124106~MAPPRIORITY~8 6011000124106~MAPADVICE~IF CARNOSINURIA CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA CHOOSE E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E71.19 6011000124106~MAPRULE~IFA 410055005 | Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) | 447562003~MAPGROUP~1 6011000124106~MAPTARGET~H31.23 6011000124106~MAPTARGET~E70.41 6011000124106~MAPRULE~IFA 410050000 | Clinical manifestation of carnosinase deficiency (disorder) | 447562003~CORRELATIONID~447561005 6011000124106~MAPTARGET~E70.8 6011000124106~MAPADVICE~IF TYROSINEMIA TYPE I CHOOSE E70.21 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF HYDROXYMETHYLGLUTARIC ACIDURIA CHOOSE E71.19 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS E88.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 447562003~MAPTARGET~ 447562003~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 410058007 | Histidinemia (disorder) | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPRULE~IFA 314467007 | Gyrate atrophy | 6011000124106~MAPPRIORITY~9 6011000124106~MAPRULE~IFA 410055005 | Hyperimidodipeptiduria | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~E88.9 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF GYRATE ATROPHY CHOOSE H31.23 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 410056006 | Tyrosinemia type I (disorder) | 6011000124106~MAPTARGET~E88.89 6011000124106~MAPRULE~IFA 410059004 | Hydroxymethylglutaric aciduria | 6011000124106~MAPTARGET~E70.21 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 410059004 | Hydroxymethylglutaric aciduria (disorder) | 6011000124106~MAPRULE~IFA 410056006 | Tyrosinemia type I | 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF CARNOSINEMIA CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000497000~MAPTARGET~XUbRE 6011000124106~MAPADVICE~IF HISTIDINEMIA CHOOSE E70.41 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 410050000 | Clinical manifestation of carnosinase deficiency | |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SCTSPA/410053003 | SCTSPA | CUI |