OMOP Concept 440066
Disorder of purine and pyrimidine metabolism
StandardConditionSNOMED238006008Disorder
Maps from
28
Descendants
219
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
28 source codes normalize to Disorder of purine and pyrimidine metabolism via the OMOP "Maps to" relationship.
Showing 25 of 28 source codes. Retrieve the full set via the API.
Synonyms
Alternative names recorded for Disorder of purine and pyrimidine metabolism across source vocabularies.
- Disorder of purine and pyrimidine metabolism (disorder)
- Purine and pyrimidine metabolism disorder
- trastorno del metabolismo de las purinas y pirimidinas
- trastorno del metabolismo de las purinas y pirimidinas (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(3)Roll up to these when you need a wider cohort.
Narrower concepts
(219)Included automatically when you query with descendants.
- 1Cytosine diphosphate choline phosphotransferase deficiency
- 1Deficiency of xanthine oxidase
- 1Disorder of purine metabolism
- 1Hereditary orotic aciduria, type 1
- 1Hereditary orotic aciduria, type 2
- 1Uridine monophosphate hydrolase deficiency
- 1Xanthinuria
- 25-amino-4-imidazole carboxamide ribosiduria
- 2Adenosine deaminase deficiency
- 2Adenylosuccinate lyase deficiency
- 2Deficiency of AMP pyrophorylase
- 2Gout
- 2Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- 2Hereditary xanthinuria
- 2Hyperuricemia
- 2Hyperuricuria
- 2Hypouricemia
- 2Inosine triphosphate pyrophosphohydrolase deficiency
- 2ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- 2Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- 2Muscle AMP deaminase deficiency
- 2NUDT15 deficiency
- 2PAICS deficiency disorder
- 2Phosphoribosylpyrophosphate synthetase superactivity
- 2Purine-nucleoside phosphorylase deficiency
Showing 25 of 219. Retrieve the full set via the API.
Get this concept via the API
Resolve Disorder of purine and pyrimidine metabolism - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/440066?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card