Neonatal intrahepatic cholestasis caused by citrin deficiency

Preferred Label : Neonatal intrahepatic cholestasis caused by citrin deficiency;

ICD-11 definition : Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.;

ICD-11 synonym : NICCD - [Neonatal intrahepatic cholestasis caused by citrin deficiency];

ICD-11 acronym : NICCD;

Details

Origin ID

987981591;

UMLS CUI

C1853942;

Automatic exact mappings (from CISMeF team)
- SLC25A13 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Citrullinemia, type II, neonatal-onset [OMIM Phenotype]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) [SNOMED CT concept]
- Neonatal-onset citrullinemia type 2 [MeSH concept]
- neonatal onset citrullinemia type 2 [Disease (Nov.)]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Citrullinemia, type II, neonatal-onset [OMIM Phenotype]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) [SNOMED CT concept]
- Neonatal-onset citrullinemia type 2 [MeSH concept]
- neonatal onset citrullinemia type 2 [Disease (Nov.)]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]

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