OMOP Concept 46271209
Deficiency of aminoacylase 1
StandardConditionSNOMED709282004Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2015
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
1 source code normalizes to Deficiency of aminoacylase 1 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C538246 | Aminoacylase 1 deficiency | Non-standard |
Synonyms
Alternative names recorded for Deficiency of aminoacylase 1 across source vocabularies.
- Aminoacylase 1 deficiency
- deficiencia de aminoacilasa 1
- deficiencia de aminoacilasa 1 (trastorno)
- Deficiency of aminoacylase 1 (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(26)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Inherited aminoaciduria
- 1Specific enzyme deficiency
- 2Aminoaciduria
- 2Autosomal hereditary disorder
- 2Enzymopathy
- 2Hereditary metabolic disease
- 3Aciduria
- 3Amino acid above reference range
- 3Finding of body product
- 3Hereditary disease
- 3Metabolic disease
- 3Urine substance level above reference range
- 4Abnormal urinary product
- 4Clinical finding
- 4Disease
- 4Finding of amino acid level
- 4Finding of urine substance level
- 4Genetic disease
- 4Measurement finding above reference range
- 5Finding of substance level
- 5Measurement finding outside reference range
- 5Urine finding
- 6Measurement finding
- 7Evaluation finding
Showing 25 of 26. Retrieve the full set via the API.
Get this concept via the API
Resolve Deficiency of aminoacylase 1 - 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/46271209?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card