Disorders of urea cycle metabolism

ICD-11 code : 5C50.A;

Preferred Label : Disorders of urea cycle metabolism;

ICD-11 synonym : disorder of urea cycle; disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia;

ICD-11 inclusion : asa synthase deficiency; ammonia; metabolic disorder; congenital hyperammonaemia;

ICD-11 "other" category code : 5C50.AY;

ICD-11 "unspecified" category code : 5C50.AZ;

Details

Origin ID

1889990301;

UMLS CUI

C0154246;

Automatic exact mappings (from CISMeF team)
- Urea cycle disorder [MedDRA Preferred Term]
- metabolism disorder urea cycle [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- 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-9 code]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Urea Cycle Metabolism Disorder [NCIt concept]
- 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]
ICD-10 Mapping
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
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 [ICD-9 code]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [MedDRA LLT]
- 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
- Argininemia [OMIM Phenotype]
- Argininemia [ORDO Disease]
- Argininemia [LOINC component]
- Argininemia [NCIt concept]
- arginase deficiency [SNOMED Notion]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]

Keyword's position in hierarchy(ies) :

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