Neonatal intrahepatic cholestasis due to citrin deficiency
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A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Synonyms: NICCD Neonatal intrahepatic cholestasis caused by citrin deficiency
This is just here as a test because I lose it
Term information
database cross reference
- ICD-10:E72.2 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1853942 (E (Exact mapping: the two concepts are equivalent))
- OMIM:605814 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- disease
- part_of some Citrin deficiency
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- has_inheritance some autosomal recessive
- has_age_of_onset some infancy
- has_age_of_onset some neonatal