Disorders of urea cycle metabolism

Preferred Label : Disorders of urea cycle metabolism;

ICD-10 exclusion note : disorders of ornithine metabolism (E72.4);

Diag associé à un acte (%) : 60.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E722;

UMLS CUI

C0154246;

Automatic exact mappings (from CISMeF team)
- Citrullinemia [NCIt concept]
- Hyperammonemia [NCIt concept]
- citrullinemia [MeSH Descriptor]
- citrullinemia [MeSH concept]
- hyperammonemia [MeSH Descriptor]
- hyperammonemia [MeSH concept]
- metabolism disorder urea cycle [Artificial nutrition thesaurus concept]
CISMeF manual mappings
- Argininemia [ORDO Disease]
Currated CISMeF NLP mapping
- Argininemia [NCIt concept]
- Argininemia [OMIM Phenotype]
- Argininemia [LOINC component]
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Urea Cycle Metabolism Disorder [NCIt concept]
- arginase deficiency [SNOMED Notion]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- hyperargininemia [MeSH concept]
- hyperargininemia [MeSH Descriptor]
- urea cycle disorder [Disease (Nov.)]
- urea cycle disorder [DO Concept]
- urea cycle disorders, inborn [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH concept]
DO Cross reference
- urea cycle disorder [DO Concept]
ICD-10 exclusion(s)
- Disorders of ornithine metabolism [ICD-10 Sub-category]
Orphanet concepts
- Acute neonatal citrullinemia type I [ORDO Disease]
- Adult-onset citrullinemia type I [ORDO Disease]
- Argininemia [ORDO Disease]
- Argininosuccinic aciduria [ORDO Disease]
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
- Citrin deficiency [ORDO Disease]
- Citrullinemia [ORDO Disease]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia type II [ORDO Disease]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Urea Cycle Metabolism Disorder [NCIt concept]
- Urea cycle disorder [MedDRA Preferred Term]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- urea cycle disorder [DO Concept]
- urea cycle disorder [Disease (Nov.)]
- urea cycle disorders, inborn [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH concept]
Validated automatic mappings to BTNT
- arginase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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