Citrullinaemia type 2

Preferred Label : Citrullinaemia type 2;

ICD-11 definition : Citrullinemia type 2 is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.;

ICD-11 synonym : Citrullinuria type 2; Adult-onset citrin deficiency; CTLN2 - [Citrullinaemia type 2];

ICD-11 acronym : CTLN2;

Details

Origin ID

1572086295;

UMLS CUI

C1863844;

Automatic exact mappings (from CISMeF team)
- SLC25A13 wt Allele [NCIt concept]
- solute carrier family 25 member 13 [ORDO Gene]
Currated CISMeF NLP mapping
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]

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