Argininemia - CISMeF

Preferred Label : Argininemia;

NCIt synonyms : Hyperargininemia;

NCIt definition : A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation.;

Details

Origin ID

C84568;

UMLS CUI

C0268548;

Automatic exact mappings (from CISMeF team)
- Hyperargininemia [HPO term]
Currated CISMeF NLP mapping
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [LOINC component]
- Argininemia [OMIM Phenotype]
- Argininemia [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininemia [PASCAL descriptor]
- arginase deficiency [SNOMED Notion]
- arginase deficiency [Disease (Nov.)]
- argininemia [Artificial nutrition thesaurus concept]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]
DO Cross reference
- hyperargininemia [DO Concept]
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]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininaemia [MedDRA LLT]
- Hyperargininemia [HPO term]
- Hyperargininemia [MedDRA LLT]
- arginase deficiency [Disease (Nov.)]
- arginase deficiency [SNOMED Notion]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]
Validated automatic mappings to NTBT
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- urea cycle disorder [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ARG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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