- CodeDescription
- 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
- E74.09 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
- E79.8 Other 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
- E88.49 Other mitochondrial metabolism disorders
- E88.81 Metabolic syndrome
- E88.89 Other specified metabolic disorders
- E88.9 Metabolic disorder, unspecified
- 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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