Medical genetics: clinical guidelines
51 guidelines of the Russian Ministry of Health in the specialty «medical genetics» — current editions with ICD-10 codes and age categories.
- 5q-associated spinal muscular atrophy
- X-linked adrenoleukodystrophy
- Congenital aniridia
- Maple syrup urine disease
- Niemann-Pick disease type C
- Pompe disease
- Fabry disease
- Congenital multiple arthrogryposis
- Hemolytic uremic syndrome
- Hypertrophic cardiomyopathy
- Glutaric aciduria type 1
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
- Other disorders of branched-chain amino acid metabolism (Methylmalonic acidemia/aciduria)
- Other lipid storage disorders (Lysosomal acid lipase deficiency)
- Other sphingolipidoses (Gaucher disease)
- Other sphingolipidoses (Niemann-Pick disease types A, B, A/B)
- Other specified congenital anomalies of respiratory system (Primary ciliary dyskinesia)
- Isovaleric acidemia/aciduria
- Renal cyst in children
- Cystic fibrosis
- Classical phenylketonuria and other hyperphenylalaninemias
- Cryopyrin-associated periodic syndromes (Other specified disorders involving the immune mechanism, not elsewhere classified)
- Multiple carboxylase deficiency (Biotinidase and holocarboxylase synthetase deficiencies)
- Urolithiasis
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type VI
- Mucopolysaccharidosis type VI
- Disorders of sulfur-bearing amino acid metabolism (Homocystinuria)
- Phosphorus metabolism disorders (Hypophosphatasia)
- Disorders of mitochondrial fatty acid $\beta$-oxidation
- Galactose metabolism disorders (Galactosemia)
- Copper metabolism disorders (Wilson disease)
- Hereditary tyrosinemia type 1
- Hereditary retinal dystrophies
- Hereditary angioedema
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-methylcrotonylglycinuria, methylcrotonyl-CoA carboxylase deficiency)
- Vitamin D deficiency. Rickets.
- Mitochondrial acetoacetyl-CoA thiolase deficiency ($\beta$-ketothiolase deficiency, T2 deficiency)
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (Other specified disorders involving the immune mechanism, not elsewhere classified)
- Duchenne progressive muscular dystrophy. Becker progressive muscular dystrophy
- Proximal spinal muscular atrophy 5q
- Propionic acidemia/aciduria
- Familial Mediterranean fever (Hereditary familial amyloidosis)
- Williams syndrome
- Glut1 deficiency syndrome
- Mitochondrial DNA depletion syndrome, TK2-associated
- Transthyretin familial amyloid polyneuropathy
- Celiac disease
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