OMOP Concept 4139452
Disorder of purine metabolism
StandardConditionSNOMED32612005Disorder
Maps from
2
Descendants
212
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Disorder of purine metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142007 | Disorder of purine metabolism | Non-standard |
| HPO | HP_0004352 | Abnormal circulating purine concentration | Non-standard |
Synonyms
Alternative names recorded for Disorder of purine metabolism across source vocabularies.
- Disorder of purine metabolism (disorder)
- trastorno del metabolismo de las purinas
- trastorno del metabolismo de las purinas (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(4)Roll up to these when you need a wider cohort.
Narrower concepts
(212)Included automatically when you query with descendants.
- 15-amino-4-imidazole carboxamide ribosiduria
- 1Adenosine deaminase deficiency
- 1Adenylosuccinate lyase deficiency
- 1Deficiency of AMP pyrophorylase
- 1Gout
- 1Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- 1Hereditary xanthinuria
- 1Hyperuricemia
- 1Hyperuricuria
- 1Hypouricemia
- 1Inosine triphosphate pyrophosphohydrolase deficiency
- 1ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- 1Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- 1Muscle AMP deaminase deficiency
- 1NUDT15 deficiency
- 1PAICS deficiency disorder
- 1Phosphoribosylpyrophosphate synthetase superactivity
- 1Purine-nucleoside phosphorylase deficiency
- 1Ribose-phosphate pyrophosphokinase overactivity
- 1X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency
- 2Acute gout
- 2Adenine phosphoribosyl transferase deficiency type I
- 2Adenine phosphoribosyl transferase deficiency type II
- 2Adenosine deaminase 2 deficiency
- 2APRT deficiency, Japanese type
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