DRG 642

Inborn and other disorders of metabolism

• C96.5 Multifocal and unisystemic Langerhans-cell histiocytosis
• C96.6 Unifocal Langerhans-cell histiocytosis
• D81.30 Adenosine deaminase deficiency, unspecified
• D81.31 Severe combined immunodeficiency due to adenosine deaminase deficiency
• D81.32 Adenosine deaminase 2 deficiency
• D81.39 Other adenosine deaminase deficiency
• D81.5 Purine nucleoside phosphorylase [PNP] deficiency
• D81.810 Biotinidase deficiency
• D84.1 Defects in the complement system
• E70.0 Classical phenylketonuria
• E70.1 Other hyperphenylalaninemias
• E70.20 Disorder of tyrosine metabolism, unspecified
• E70.21 Tyrosinemia
• E70.29 Other disorders of tyrosine metabolism
• E70.30 Albinism, unspecified
• E70.310 X-linked ocular albinism
• E70.311 Autosomal recessive ocular albinism
• E70.318 Other ocular albinism
• E70.319 Ocular albinism, unspecified
• E70.320 Tyrosinase negative oculocutaneous albinism
• E70.321 Tyrosinase positive oculocutaneous albinism
• E70.328 Other oculocutaneous albinism
• E70.329 Oculocutaneous albinism, unspecified
• E70.330 Chediak-Higashi syndrome
• E70.331 Hermansky-Pudlak syndrome
• E70.338 Other albinism with hematologic abnormality
• E70.339 Albinism with hematologic abnormality, unspecified
• E70.39 Other specified albinism
• E70.40 Disorders of histidine metabolism, unspecified
• E70.41 Histidinemia
• E70.49 Other disorders of histidine metabolism
• E70.5 Disorders of tryptophan metabolism
• E70.81 Aromatic L-amino acid decarboxylase deficiency
• E70.89 Other disorders of aromatic amino-acid metabolism
• E70.9 Disorder of aromatic amino-acid metabolism, unspecified
• E71.0 Maple-syrup-urine disease
• E71.110 Isovaleric acidemia
• E71.111 3-methylglutaconic aciduria
• E71.118 Other branched-chain organic acidurias
• E71.120 Methylmalonic acidemia
• E71.121 Propionic acidemia
• E71.128 Other disorders of propionate metabolism
• E71.19 Other disorders of branched-chain amino-acid metabolism
• E71.2 Disorder of branched-chain amino-acid metabolism, unspecified
• E71.30 Disorder of fatty-acid metabolism, unspecified
• E71.310 Long chain/very long chain acyl CoA dehydrogenase deficiency
• E71.311 Medium chain acyl CoA dehydrogenase deficiency
• E71.312 Short chain acyl CoA dehydrogenase deficiency
• E71.313 Glutaric aciduria type II
• E71.314 Muscle carnitine palmitoyltransferase deficiency
• E71.318 Other disorders of fatty-acid oxidation
• E71.32 Disorders of ketone metabolism
• E71.39 Other disorders of fatty-acid metabolism
• E71.40 Disorder of carnitine metabolism, unspecified
• E71.41 Primary carnitine deficiency
• E71.42 Carnitine deficiency due to inborn errors of metabolism
• E71.43 Iatrogenic carnitine deficiency
• E71.440 Ruvalcaba-Myhre-Smith syndrome
• E71.448 Other secondary carnitine deficiency
• E71.50 Peroxisomal disorder, unspecified
• E71.510 Zellweger syndrome
• E71.511 Neonatal adrenoleukodystrophy
• E71.518 Other disorders of peroxisome biogenesis
• E71.520 Childhood cerebral X-linked adrenoleukodystrophy
• E71.521 Adolescent X-linked adrenoleukodystrophy
• E71.522 Adrenomyeloneuropathy
• E71.528 Other X-linked adrenoleukodystrophy
• E71.529 X-linked adrenoleukodystrophy, unspecified type
• E71.53 Other group 2 peroxisomal disorders
• E71.540 Rhizomelic chondrodysplasia punctata
• E71.541 Zellweger-like syndrome
• E71.542 Other group 3 peroxisomal disorders
• E71.548 Other peroxisomal disorders
• E72.00 Disorders of amino-acid transport, unspecified
• E72.01 Cystinuria
• E72.02 Hartnup’s disease
• E72.03 Lowe’s syndrome
• E72.04 Cystinosis
• E72.09 Other disorders of amino-acid transport
• E72.10 Disorders of sulfur-bearing amino-acid metabolism, unspecified
• E72.11 Homocystinuria
• E72.12 Methylenetetrahydrofolate reductase deficiency
• E72.19 Other disorders of sulfur-bearing amino-acid metabolism
• E72.20 Disorder of urea cycle metabolism, unspecified
• E72.21 Argininemia
• E72.22 Arginosuccinic aciduria
• E72.23 Citrullinemia
• E72.29 Other disorders of urea cycle metabolism
• E72.3 Disorders of lysine and hydroxylysine metabolism
• E72.4 Disorders of ornithine metabolism
• E72.50 Disorder of glycine metabolism, unspecified
• E72.51 Non-ketotic hyperglycinemia
• E72.52 Trimethylaminuria
• E72.53 Primary hyperoxaluria
• E72.59 Other disorders of glycine metabolism
• E72.81 Disorders of gamma aminobutyric acid metabolism
• E72.89 Other specified disorders of amino-acid metabolism
• E72.9 Disorder of amino-acid metabolism, unspecified
• E74.00 Glycogen storage disease, unspecified
• E74.01 von Gierke disease
• E74.02 Pompe disease
• E74.03 Cori disease
• E74.04 McArdle disease
• E74.05 Lysosome-associated membrane protein 2 [LAMP2] deficiency
• E74.09 Other glycogen storage disease
• E74.20 Disorders of galactose metabolism, unspecified
• E74.21 Galactosemia
• E74.29 Other disorders of galactose metabolism
• E74.4 Disorders of pyruvate metabolism and gluconeogenesis
• E74.810 Glucose transporter protein type 1 deficiency
• E74.818 Other disorders of glucose transport
• E74.819 Disorders of glucose transport, unspecified
• E74.820 SLC13A5 Citrate Transporter Disorder
• E74.829 Other disorders of citrate metabolism
• E74.89 Other specified disorders of carbohydrate metabolism
• E74.9 Disorder of carbohydrate metabolism, unspecified
• E75.21 Fabry (-Anderson) disease
• E75.22 Gaucher disease
• E75.240 Niemann-Pick disease type A
• E75.241 Niemann-Pick disease type B
• E75.242 Niemann-Pick disease type C
• E75.243 Niemann-Pick disease type D
• E75.244 Niemann-Pick disease type A/B
• E75.248 Other Niemann-Pick disease
• E75.249 Niemann-Pick disease, unspecified
• E75.3 Sphingolipidosis, unspecified
• E75.5 Other lipid storage disorders
• E75.6 Lipid storage disorder, unspecified
• E76.01 Hurler’s syndrome
• E76.02 Hurler-Scheie syndrome
• E76.03 Scheie’s syndrome
• E76.1 Mucopolysaccharidosis, type II
• E76.210 Morquio A mucopolysaccharidoses
• E76.211 Morquio B mucopolysaccharidoses
• E76.219 Morquio mucopolysaccharidoses, unspecified
• E76.22 Sanfilippo mucopolysaccharidoses
• E76.29 Other mucopolysaccharidoses
• E76.3 Mucopolysaccharidosis, unspecified
• E76.8 Other disorders of glucosaminoglycan metabolism
• E76.9 Glucosaminoglycan metabolism disorder, unspecified
• E77.0 Defects in post-translational modification of lysosomal enzymes
• E77.1 Defects in glycoprotein degradation
• E77.8 Other disorders of glycoprotein metabolism
• E77.9 Disorder of glycoprotein metabolism, unspecified
• E78.00 Pure hypercholesterolemia, unspecified
• E78.01 Familial hypercholesterolemia
• E78.1 Pure hyperglyceridemia
• E78.2 Mixed hyperlipidemia
• E78.3 Hyperchylomicronemia
• E78.41 Elevated Lipoprotein(a)
• E78.49 Other hyperlipidemia
• E78.5 Hyperlipidemia, unspecified
• E78.6 Lipoprotein deficiency
• E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
• E78.79 Other disorders of bile acid and cholesterol metabolism
• E78.81 Lipoid dermatoarthritis
• E78.89 Other lipoprotein metabolism disorders
• E78.9 Disorder of lipoprotein metabolism, unspecified
• E79.1 Lesch-Nyhan syndrome
• E79.2 Myoadenylate deaminase deficiency
• E79.81 Aicardi-Goutières syndrome
• E79.82 Hereditary xanthinuria
• E79.89 Other specified disorders of purine and pyrimidine metabolism
• E79.9 Disorder of purine and pyrimidine metabolism, unspecified
• E80.0 Hereditary erythropoietic porphyria
• E80.1 Porphyria cutanea tarda
• E80.20 Unspecified porphyria
• E80.21 Acute intermittent (hepatic) porphyria
• E80.29 Other porphyria
• E80.3 Defects of catalase and peroxidase
• E83.00 Disorder of copper metabolism, unspecified
• E83.01 Wilson’s disease
• E83.09 Other disorders of copper metabolism
• E83.10 Disorder of iron metabolism, unspecified
• E83.110 Hereditary hemochromatosis
• E83.111 Hemochromatosis due to repeated red blood cell transfusions
• E83.118 Other hemochromatosis
• E83.119 Hemochromatosis, unspecified
• E83.19 Other disorders of iron metabolism
• E83.30 Disorder of phosphorus metabolism, unspecified
• E83.31 Familial hypophosphatemia
• E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2)
• E83.39 Other disorders of phosphorus metabolism
• E83.89 Other disorders of mineral metabolism
• E83.9 Disorder of mineral metabolism, unspecified
• E88.01 Alpha-1-antitrypsin deficiency
• E88.1 Lipodystrophy, not elsewhere classified
• E88.2 Lipomatosis, not elsewhere classified
• E88.40 Mitochondrial metabolism disorder, unspecified
• E88.41 MELAS syndrome
• E88.42 MERRF syndrome
• E88.43 Disorders of mitochondrial tRNA synthetases
• E88.49 Other mitochondrial metabolism disorders
• E88.810 Metabolic syndrome
• E88.811 Insulin resistance syndrome, Type A
• E88.818 Other insulin resistance
• E88.819 Insulin resistance, unspecified
• E88.82 Obesity due to disruption of MC4R pathway
• E88.89 Other specified metabolic disorders
• E88.9 Metabolic disorder, unspecified
• E88.A Wasting disease (syndrome) due to underlying condition
• H49.811 Kearns-Sayre syndrome, right eye
• H49.812 Kearns-Sayre syndrome, left eye
• H49.813 Kearns-Sayre syndrome, bilateral
• H49.819 Kearns-Sayre syndrome, unspecified eye