Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- DIDMOAD syndrome (synonym: Wolfram syndrome) – genetic disorder with autosomal recessive inheritance; symptom complex with diabetes mellitus, diabetes insipidus (hormone deficiency-related disorder in hydrogen metabolism leading to extremely high urine excretion (polyuria; 5-25 l/day) due to impaired concentrating capacity of the kidneys), optic atrophy (tissue atrophy (atrophy) of the optic nerve/optic nerve), sensorineural hearing loss.
- Congenital hypothyroidism (congenital hypothyroidism).
- POEMS syndrome – rare variant of multiple myeloma (see below) or associated paraneoplasia (concomitant symptoms of cancer that do not arise primarily from the neoplasia (solid tumors or leukemias)).
- Trisomy 13 (Patau syndrome; synonyms: Patau syndrome, Bartholin-Patau syndrome, D1 trisomy) – triplication of chromosome 13.
- Trisomy 18 (Edwards syndrome; synonyms: E1 trisomy, trisomy E) – triplication of chromosome 18.
- Turner syndrome (Ullrich-Turner syndrome) – simple presence of the X chromosome.
- Zellweger syndrome (cerebral-hepatic-renal syndrome, cerebro-hepato-renal syndrome ) – genetic metabolic disease with autosomal recessive inheritance characterized by the absence of peroxisomes (spherical membrane-limited organelles); Syndrome with malformations of the brain, kidneys (multicystic kidney dysplasia), heart (especially ventricular septal defects), and hepatomegaly (enlargement of the liver); severe cognitive disability.
