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