Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Abetalipoproteinemia (synonym: homozygous familial hypobetalipoproteinemia, ABL/HoFHBL) – genetic disorder with autosomal recessive inheritance; severe form of familial hypobetalipoproteinemia characterized by deficiency of apolipoprotein B48 and B100; defect in the formation of chylomicrons leading to fat digestion disorders in children, resulting in malabsorption (disorder of food absorption).
Endocrine, nutritional and metabolic diseases (E00-E90).
- Familial heterozygous hypobetalipoproteinemia (FHBL) [total cholesterol, LDL cholesterol, and apolipoprotein B (ApoB) in FHBL below the 5th percentile, corresponding to total cholesterol of approximately < 150 mg/dl, LDL cholesterol of < 70 mg/dl, and ApoB < 50 mg/dl]
- Hemochromatosis (iron storage disease) – genetic disease with autosomal recessive inheritance with increased deposition of iron as a result of increased iron concentration in the blood with tissue damage.
- Lecithin cholesterol acyltransferase deficiency (LCAT deficiency; rare, autosomal recessive inherited enzyme defect of extracellular cholesterol metabolism).
- Lipodystrophy
- Wilson’s disease (copper storage disease) – autosomal recessive inherited disease in which one or more gene mutations disrupt copper metabolism in the liver.
Infectious and parasitic diseases (A00-B99).
Liver, gallbladder, and bile ducts-pancreas (pancreas) (K70-K77; K80-K87).
- Autoimmune hepatopathies – liver diseases caused by autoimmune processes.
Neoplasms – tumor diseases (C00-D48).
- Hepatocellular carcinoma (liver cancer).
