C96.5   Multifocal and unisystemic Langerhans-cell histiocytosis
C96.6   Unifocal Langerhans-cell histiocytosis
D81.3   Adenosine deaminase ADA 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
E70.8   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 chainvery 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   Hyperoxaluria
E72.59   Other disorders of glycine metabolism
E72.8   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
E74.8   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
E75.248   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
E78.4   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