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SNOMED CT
Last uploaded:
August 28, 2024
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| Preferred Name | Hereditary orotic aciduria, type 1 | |
| Synonyms |
OPRT AND OMP decarboxylase deficiency Uridine monophosphate synthase deficiency Hereditary orotic aciduria type 1 UMP synthase deficiency Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency Hereditary orotic aciduria, type 1 (disorder) Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency UMPS - Uridine monophosphate synthase deficiency |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/69525003 |
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| Active |
1
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| altLabel |
OPRT AND OMP decarboxylase deficiency Uridine monophosphate synthase deficiency Hereditary orotic aciduria type 1 UMP synthase deficiency Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency Hereditary orotic aciduria, type 1 (disorder) Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency UMPS - Uridine monophosphate synthase deficiency
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005
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| CTV3ID |
X40Us
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| cui |
C0268130
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| DEFINITION STATUS ID |
900000000000074008
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| Effective time |
20020131
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| notation |
69525003
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| prefLabel |
Hereditary orotic aciduria, type 1
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000497000~MAPTARGET~X40Us 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E79.89 447562003~MAPADVICE~ALWAYS E79.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS E79.8 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~E79.8 447562003~MAPTARGET~E79.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS E79.89 900000000000509007~ACCEPTABILITYID~900000000000549004
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| tui |
T047
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| Type ID |
900000000000003001 900000000000013009
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| subClassOf |
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