Hyperargininemia

Preferred Label : Hyperargininemia;

Obsolete resource : true;

NCIt definition : A rare autosomal recessive disorder characterized by abnormalities in the urea cycle. It is caused by deficiency of the enzyme arginase, resulting in increased levels of arginine in the plasma and the cerebrospinal fluid. It affects the nervous system.;

NCIt note : See 'Argininemia';

Concept status : Retired_Concept;

Details

Origin ID

C84769;

UMLS CUI

C0268548;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arginase 1 deficiency [MedDRA LLT]
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [ORDO Disease]
- Argininemia [OMIM Phenotype]
- Argininemia [LOINC component]
- Hyperargininaemia [MedDRA LLT]
- Hyperargininemia [HPO term]
- Hyperargininemia [MedDRA LLT]
- arginase deficiency [SNOMED Notion]
- arginase deficiency [Disease (Nov.)]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]

Keyword's position in hierarchy(ies) :

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