Neonatal intrahepatic cholestasis due to citrin deficiency

disorder

SNOMED 717155003CUI C1853942

Overview

Neonatal intrahepatic cholestasis due to citrin deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Conjugated hyperbilirubinemia

Always present (100%)HP:0002908

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Hyperargininemia

Always present (100%)HP:0500153

Increased serum bile acid concentration

Always present (100%)HP:0012202

Macrovesicular steatosis

Always present (100%)HP:0001403

Microvesicular steatosis

Always present (100%)HP:0001414

Portal fibrosis shown on biopsy

Always present (100%)HP:0006580

Decreased serum immunoglobulin

Very frequent (80-99%)HP:0004313

Dyslipidaemia

Very frequent (80-99%)HP:0003119

Elevated alkaline phosphatase

Very frequent (80-99%)HP:0003155

Elevated gamma-glutamyltransferase level

Very frequent (80-99%)HP:0030948

Elevated plasma citrulline

Very frequent (80-99%)HP:0011966

Galactosemia

Very frequent (80-99%)HP:0012024

High blood bilirubin levels

Very frequent (80-99%)HP:0002904

Hypoalbuminaemia

Very frequent (80-99%)HP:0003073

Increased lactate dehydrogenase level

Very frequent (80-99%)HP:0025435

Increased triglycerides

Very frequent (80-99%)HP:0002155

Lacticacidosis

Very frequent (80-99%)HP:0003128

Low factor II activity

Very frequent (80-99%)HP:0008151

Serum alpha-fetoprotein increased

Very frequent (80-99%)HP:0006254

Slowed or blocked flow of bile from liver

Very frequent (80-99%)HP:0001396

Yellowing of the skin

Very frequent (80-99%)HP:0000952

Abnormal circulating arginine concentration

Frequent (30-79%)HP:0010909

Abnormal circulating glutamine concentration

Frequent (30-79%)HP:0010903

Abnormality of alanine metabolism

Frequent (30-79%)HP:0010916

Diarrhea

Frequent (30-79%)HP:0002014

Enlarged liver

Frequent (30-79%)HP:0002240

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Fatty liver

Frequent (30-79%)HP:0001397

Related Conditions

Disease of biliary system(parent)

Cholestasis in newborn(parent)

Disorder of liver due to disorder of amino acid metabolism(parent)

Quick Facts

SNOMED CT: 717155003
UMLS CUI: C1853942
Fully Specified Name: Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.