Argininemia - CISMeF

Preferred Label : Argininemia;

LOINC status : ACTIVE;

Synonyme UMLS : ARGI deficiency; Hyperargininemia; Arginase deficiency; Deficiency of arginase;

UMLS MTHU# : MTHU021622;

Details

Origin ID

LP56795-5;

UMLS CUI

C5399765;

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 [NCIt concept]
- 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 [Disease (Nov.)]
- arginase deficiency [SNOMED Notion]
- argininemia [Artificial nutrition thesaurus concept]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]
Has phenotype(s) (HPO)
- Growth failure [HPO term]
LOINC code(s)
- Argininemia:Imp:Pt:Bld.dot:Ord: [LOINC code]
Semantic type(s)
- Finding [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 [OMIM Phenotype]
- Argininemia [ORDO Disease]
- Argininemia [NCIt concept]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininemia [NCIt concept]
- Hyperargininemia [HPO term]
- arginase deficiency [Disease (Nov.)]
- arginase deficiency [SNOMED Notion]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH concept]
- hyperargininemia [MeSH Descriptor]
Validated automatic mappings to NTBT
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- urea cycle disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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