OMOP Concept 4164940
Argininosuccinate lyase deficiency
StandardConditionSNOMED41013004Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
5 source codes normalize to Argininosuccinate lyase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 148478 | Argininosuccinate lyase deficiency | Non-standard |
| HPO | HP_0025630 | Argininosuccinic aciduria | Non-standard |
| ICD10CM | E72.22 | Arginosuccinic aciduria | Non-standard |
| MeSH | D056807 | Argininosuccinic Aciduria | Non-standard |
| Read | C306200 | Argininosuccinic aciduria | Non-standard |
Synonyms
Alternative names recorded for Argininosuccinate lyase deficiency across source vocabularies.
- aciduria argininosuccínica
- Argininosuccinate lyase deficiency (disorder)
- argininosuccinato liasa, deficiencia
- Argininosuccinic aciduria
- ASAL deficiency
- ASL deficiency
- ASL-gene related argininosuccinate lyase deficiency
- deficiencia de argininosuccinato liasa
- deficiencia de argininosuccinato liasa (trastorno)
- deficiencia de ASL (argininosuccinato liasa)
- Deficiency of argininosuccinate lyase
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of the urea cycle metabolism
- 1Inborn error of metabolism
- 1Specific enzyme deficiency
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Disorder of amino acid and organic acid metabolism
- 2Enzymopathy
- 2Hereditary metabolic disease
- 3Disorder of amino acid metabolism
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 5Clinical finding
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