Citrullinemia Type I

Preferred Label : Citrullinemia Type I;

NCIt synonyms : Argininosuccinate Synthetase Deficiency; CTLN1;

NCIt definition : An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ASS1 gene, encoding argininosuccinate synthetase.;

NCI Metathesaurus CUI : CL552528;

Details

Origin ID

C150601;

UMLS CUI

C4721769;

Automatic exact mappings (from CISMeF team)
- argininosuccinate synthase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia type 1 [ICD-11 More detail]
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- citrullinemia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
Validated automatic mappings to NTBT
- Citrullinaemia [ICD-11 Sub-sub category]
- citrullinemia [Artificial nutrition thesaurus concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASS1 Gene [NCIt concept]
- SLC25A13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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