Carbamoylphosphate synthetase deficiency

ICD-11 code : 5C50.A1;

Preferred Label : Carbamoylphosphate synthetase deficiency;

ICD-11 definition : Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.;

ICD-11 synonym : Carbamylphosphate synthetase deficiency;

Details

Origin ID

327894003;

Currated CISMeF NLP mapping
- Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to [OMIM Phenotype]
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate Synthetase I Deficiency [NCIt concept]
- Carbamoyl-Phosphate synthase I deficiency disease [MeSH concept]
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
- Carbamylphosphate synthetase deficiency [MedDRA LLT]
- Congenital hyperammonemia, type I (disorder) [Inactive SNOMED CT concept]
- carbamoyl phosphate synthase i deficiency disease [Disease (Nov.)]
- carbamoyl-phosphate synthase i deficiency disease [MeSH Descriptor]
- congenital hyperammonemia, type i [SNOMED Notion]
ICD-10 Mapping
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- Carbamoyl-phosphate synthetase 1 deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]

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