Citrullinaemia

ICD-11 code : 5C50.A3;

Preferred Label : Citrullinaemia;

ICD-11 synonym : Argininosuccinate synthetase deficiency; Citrullinuria;

ICD-11 inclusion : metabolic disorder of citrulline; deficiency of citrulline-aspartate ligase;

Details

Origin ID

640937125;

Automatic exact mappings (from CISMeF team)
- Citrullinuria [HPO term]
- citrullinemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [MedDRA LLT]
- Citrullinemia [ORDO Disease]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [MedDRA LLT]
- Citrullinemia [NCIt concept]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [SNOMED Notion]
- citrullinemia [MeSH concept]
- citrullinemia [MeSH Descriptor]
ICD-10 Mapping
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- Citrullinemia Type I [NCIt concept]
- Citrullinemia type I [ORDO Disease]

Keyword's position in hierarchy(ies) :

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