Citrullinemia - CISMeF

Preferred Label : Citrullinemia;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.;

Details

Origin ID

C84639;

UMLS CUI

C0175683;

Automatic exact mappings (from CISMeF team)
- Citrin deficiency (disorder) [SNOMED CT concept]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- citrullinemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Citrullinaemia [ICD-11 Sub-sub category]
- Citrullinaemia [MedDRA LLT]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [ORDO Disease]
- Citrullinemia [MedDRA LLT]
- Citrullinemia (disorder) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [Disease (Nov.)]
- citrullinemia [DO Concept]
- citrullinemia [MeSH Descriptor]
- citrullinemia [MeSH concept]
- citrullinemia [SNOMED Notion]
DO Cross reference
- citrullinemia [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Citrullinuria (finding) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [MedDRA LLT]
- Citrullinemia [ORDO Disease]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [MedDRA LLT]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- Citrullinuria [HPO term]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [DO Concept]
- citrullinemia [Disease (Nov.)]
- citrullinemia [MeSH Descriptor]
- citrullinemia [MeSH concept]
- citrullinemia [SNOMED Notion]
Validated automatic mappings to BTNT
- Citrullinemia, classic [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- ASS1 Gene [NCIt concept]
- SLC25A13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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