OMOP Concept 4045236
Cystathioninuria
StandardConditionSNOMED13003007Disorder
Maps from
3
Descendants
0
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
3 source codes normalize to Cystathioninuria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142996 | Cystathioninuria | Non-standard |
| HPO | HP_0003153 | Cystathioninuria | Non-standard |
| Nebraska Lexicon | 13003007 | Cystathioninuria | Non-standard |
Synonyms
Alternative names recorded for Cystathioninuria across source vocabularies.
- cistationinuria
- cistationinuria (trastorno)
- CTH - Cystathioninuria
- Cystathionine gamma-lyase deficiency syndrome
- Cystathioninuria (disorder)
- deficiencia de cistationina gamma-liasa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(16)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of sulfur-bearing amino acid metabolism
- 1Inborn error of amino acid metabolism
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Hereditary metabolic disease
- 4Disorder of fetus and/or newborn
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
Get this concept via the API
Resolve Cystathioninuria - 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/4045236?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card