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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/410053003
http://purl.bioontology.org/ontology/SNOMEDCT/410053003
|
|---|---|
| Preferred Name | Clinical manifestation of enzyme deficiency |
| Synonyms |
Clinical manifestation of enzyme deficiency (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Clinical manifestation of enzyme deficiency
|
|---|---|
| altLabel | Clinical manifestation of enzyme deficiency (disorder)
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Effective time | 20040731
|
| cui | C1444206
|
| CTV3ID | XUbRE
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| tui | T047
|
| Active | 1
|
| notation | 410053003
|
| type | |
| subClassOf | |
| Due to | |
| 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~IFA 410056006 | Tyrosinemia type 1 |
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~MAPADVICE~IF TYROSINEMIA TYPE 1 CHOOSE E70.21 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
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 |
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