Inborn and other disorders of metabolism DRG 642

The 2024 Diagnosis Related Groups dataset

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

E74.89 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

E88.89 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

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