neonatal-onset citrullinemia type 2

Preferred Label : neonatal-onset citrullinemia type 2;

MeSH synonym : neonatal-onset citrullinemia type II; NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency; cholestasis, neonatal intrahepatic, caused by citrin deficiency; citrullinemia, type II, Neonatal-Onset;

Details

Origin ID

C536398;

UMLS CUI

C1853942;

Automatic exact mappings (from CISMeF team)
- SLC25A13 wt Allele [NCIt concept]
- neonatal-onset type II citrullinemia [DO Concept]
Currated CISMeF NLP mapping
- Citrullinemia, type II, neonatal-onset [OMIM Phenotype]
- Neonatal intrahepatic cholestasis caused by citrin deficiency [ICD-11 More detail]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- neonatal onset citrullinemia type 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- citrullinemia [MeSH Descriptor]
Record concept(s)
- Neonatal-onset citrullinemia type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Citrullinemia, type II, neonatal-onset [OMIM Phenotype]
- Neonatal intrahepatic cholestasis caused by citrin deficiency [ICD-11 More detail]
- 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 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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