Citrullinaemia type 1

Preferred Label : Citrullinaemia type 1;

ICD-11 definition : Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).;

ICD-11 synonym : Citrullinuria type 1; Citrullinuria type 3; Argininosuccinate synthase deficiency; Classic citrullinaemia; Citrullinaemia type 3; CTLN1 - [Citrullinaemia type 1];

ICD-11 acronym : CTLN1;

Details

Origin ID

1410274578;

Automatic exact mappings (from CISMeF team)
- ASS1 wt Allele [NCIt concept]
- citrullinemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- CTNL1 [MeSH Supplementary Concept]
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia Type I [NCIt concept]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [MeSH Descriptor]
See also inter- (CISMeF)
- argininosuccinate synthase 1 [ORDO Gene]
Validated automatic mappings to NTBT
- Citrullinemia (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients