Inborn and other disorders of metabolism
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