Inborn and Other Disorders of Metabolism

Principal diagnosis codes (216)

• C96.5Multifocal and unisystemic Langerhans-cell histiocytosis
• C96.6Unifocal Langerhans-cell histiocytosis
• D81.30Adenosine deaminase deficiency, unspecified
• D81.31Severe combined immunodeficiency due to adenosine deaminase deficiency
• D81.32Adenosine deaminase 2 deficiency
• D81.39Other adenosine deaminase deficiency
• D81.5Purine nucleoside phosphorylase [PNP] deficiency
• D81.810Biotinidase deficiency
• D84.1Defects in the complement system
• E70.0Classical phenylketonuria
• E70.1Other hyperphenylalaninemias
• E70.20Disorder of tyrosine metabolism, unspecified
• E70.21Tyrosinemia
• E70.29Other disorders of tyrosine metabolism
• E70.30Albinism, unspecified
• E70.310X-linked ocular albinism
• E70.311Autosomal recessive ocular albinism
• E70.318Other ocular albinism
• E70.319Ocular albinism, unspecified
• E70.320Tyrosinase negative oculocutaneous albinism
• E70.321Tyrosinase positive oculocutaneous albinism
• E70.328Other oculocutaneous albinism
• E70.329Oculocutaneous albinism, unspecified
• E70.330Chediak-Higashi syndrome
• E70.331Hermansky-Pudlak syndrome
• E70.338Other albinism with hematologic abnormality
• E70.339Albinism with hematologic abnormality, unspecified
• E70.39Other specified albinism
• E70.40Disorders of histidine metabolism, unspecified
• E70.41Histidinemia
• E70.49Other disorders of histidine metabolism
• E70.5Disorders of tryptophan metabolism
• E70.81Aromatic L-amino acid decarboxylase deficiency
• E70.89Other disorders of aromatic amino-acid metabolism
• E70.9Disorder of aromatic amino-acid metabolism, unspecified
• E71.0Maple-syrup-urine disease
• E71.110Isovaleric acidemia
• E71.1113-methylglutaconic aciduria
• E71.118Other branched-chain organic acidurias
• E71.120Methylmalonic acidemia
• E71.121Propionic acidemia
• E71.128Other disorders of propionate metabolism
• E71.19Other disorders of branched-chain amino-acid metabolism
• E71.2Disorder of branched-chain amino-acid metabolism, unspecified
• E71.30Disorder of fatty-acid metabolism, unspecified
• E71.310Long chain/very long chain acyl CoA dehydrogenase deficiency
• E71.311Medium chain acyl CoA dehydrogenase deficiency
• E71.312Short chain acyl CoA dehydrogenase deficiency
• E71.313Glutaric aciduria type II
• E71.314Muscle carnitine palmitoyltransferase deficiency
• E71.318Other disorders of fatty-acid oxidation
• E71.32Disorders of ketone metabolism
• E71.39Other disorders of fatty-acid metabolism
• E71.40Disorder of carnitine metabolism, unspecified
• E71.41Primary carnitine deficiency
• E71.42Carnitine deficiency due to inborn errors of metabolism
• E71.43Iatrogenic carnitine deficiency
• E71.440Ruvalcaba-Myhre-Smith syndrome
• E71.448Other secondary carnitine deficiency
• E71.50Peroxisomal disorder, unspecified
• E71.510Zellweger syndrome
• E71.511Neonatal adrenoleukodystrophy
• E71.518Other disorders of peroxisome biogenesis
• E71.520Childhood cerebral X-linked adrenoleukodystrophy
• E71.521Adolescent X-linked adrenoleukodystrophy
• E71.522Adrenomyeloneuropathy
• E71.528Other X-linked adrenoleukodystrophy
• E71.529X-linked adrenoleukodystrophy, unspecified type
• E71.53Other group 2 peroxisomal disorders
• E71.540Rhizomelic chondrodysplasia punctata
• E71.541Zellweger-like syndrome
• E71.542Other group 3 peroxisomal disorders
• E71.548Other peroxisomal disorders
• E72.00Disorders of amino-acid transport, unspecified
• E72.01Cystinuria
• E72.02Hartnup's disease
• E72.03Lowe's syndrome
• E72.04Cystinosis
• E72.09Other disorders of amino-acid transport
• E72.10Disorders of sulfur-bearing amino-acid metabolism, unspecified
• E72.11Homocystinuria
• E72.12Methylenetetrahydrofolate reductase deficiency
• E72.19Other disorders of sulfur-bearing amino-acid metabolism
• E72.20Disorder of urea cycle metabolism, unspecified
• E72.21Argininemia
• E72.22Arginosuccinic aciduria
• E72.23Citrullinemia
• E72.29Other disorders of urea cycle metabolism
• E72.3Disorders of lysine and hydroxylysine metabolism
• E72.4Disorders of ornithine metabolism
• E72.50Disorder of glycine metabolism, unspecified
• E72.51Non-ketotic hyperglycinemia
• E72.52Trimethylaminuria
• E72.530Primary hyperoxaluria, type 1
• E72.538Other specified primary hyperoxaluria
• E72.539Primary hyperoxaluria, unspecified
• E72.59Other disorders of glycine metabolism
• E72.81Disorders of gamma aminobutyric acid metabolism
• E72.89Other specified disorders of amino-acid metabolism
• E72.9Disorder of amino-acid metabolism, unspecified
• E74.00Glycogen storage disease, unspecified
• E74.01von Gierke disease
• E74.02Pompe disease
• E74.03Cori disease
• E74.04McArdle disease
• E74.05Lysosome-associated membrane protein 2 [LAMP2] deficiency
• E74.09Other glycogen storage disease
• E74.20Disorders of galactose metabolism, unspecified
• E74.21Galactosemia
• E74.29Other disorders of galactose metabolism
• E74.4Disorders of pyruvate metabolism and gluconeogenesis
• E74.810Glucose transporter protein type 1 deficiency
• E74.818Other disorders of glucose transport
• E74.819Disorders of glucose transport, unspecified
• E74.820SLC13A5 Citrate Transporter Disorder
• E74.829Other disorders of citrate metabolism
• E74.89Other specified disorders of carbohydrate metabolism
• E74.9Disorder of carbohydrate metabolism, unspecified
• E75.21Fabry (-Anderson) disease
• E75.22Gaucher disease
• E75.240Niemann-Pick disease type A
• E75.241Niemann-Pick disease type B
• E75.242Niemann-Pick disease type C
• E75.243Niemann-Pick disease type D
• E75.244Niemann-Pick disease type A/B
• E75.248Other Niemann-Pick disease
• E75.249Niemann-Pick disease, unspecified
• E75.3Sphingolipidosis, unspecified
• E75.5Other lipid storage disorders
• E75.6Lipid storage disorder, unspecified
• E76.01Hurler's syndrome
• E76.02Hurler-Scheie syndrome
• E76.03Scheie's syndrome
• E76.1Mucopolysaccharidosis, type II
• E76.210Morquio A mucopolysaccharidoses
• E76.211Morquio B mucopolysaccharidoses
• E76.219Morquio mucopolysaccharidoses, unspecified
• E76.22Sanfilippo mucopolysaccharidoses
• E76.29Other mucopolysaccharidoses
• E76.3Mucopolysaccharidosis, unspecified
• E76.8Other disorders of glucosaminoglycan metabolism
• E76.9Glucosaminoglycan metabolism disorder, unspecified
• E77.0Defects in post-translational modification of lysosomal enzymes
• E77.1Defects in glycoprotein degradation
• E77.8Other disorders of glycoprotein metabolism
• E77.9Disorder of glycoprotein metabolism, unspecified
• E78.00Pure hypercholesterolemia, unspecified
• E78.010Homozygous familial hypercholesterolemia [HoFH]
• E78.011Heterozygous familial hypercholesterolemia [HeFH]
• E78.019Familial hypercholesterolemia, unspecified
• E78.1Pure hyperglyceridemia
• E78.2Mixed hyperlipidemia
• E78.3Hyperchylomicronemia
• E78.41Elevated Lipoprotein(a)
• E78.49Other hyperlipidemia
• E78.5Hyperlipidemia, unspecified
• E78.6Lipoprotein deficiency
• E78.70Disorder of bile acid and cholesterol metabolism, unspecified
• E78.79Other disorders of bile acid and cholesterol metabolism
• E78.81Lipoid dermatoarthritis
• E78.89Other lipoprotein metabolism disorders
• E78.9Disorder of lipoprotein metabolism, unspecified
• E79.1Lesch-Nyhan syndrome
• E79.2Myoadenylate deaminase deficiency
• E79.81Aicardi-Goutières syndrome
• E79.82Hereditary xanthinuria
• E79.89Other specified disorders of purine and pyrimidine metabolism
• E79.9Disorder of purine and pyrimidine metabolism, unspecified
• E80.0Hereditary erythropoietic porphyria
• E80.1Porphyria cutanea tarda
• E80.20Unspecified porphyria
• E80.21Acute intermittent (hepatic) porphyria
• E80.29Other porphyria
• E80.3Defects of catalase and peroxidase
• E83.00Disorder of copper metabolism, unspecified
• E83.01Wilson's disease
• E83.09Other disorders of copper metabolism
• E83.10Disorder of iron metabolism, unspecified
• E83.110Hereditary hemochromatosis
• E83.111Hemochromatosis due to repeated red blood cell transfusions
• E83.118Other hemochromatosis
• E83.119Hemochromatosis, unspecified
• E83.19Other disorders of iron metabolism
• E83.30Disorder of phosphorus metabolism, unspecified
• E83.31Familial hypophosphatemia
• E83.32Hereditary vitamin D-dependent rickets (type 1) (type 2)
• E83.39Other disorders of phosphorus metabolism
• E83.822ENPP1 deficiency causing autosomal recessive hypophosphatemic rickets type 2
• E83.824ABCC6 deficiency causing pseudoxanthoma elasticum
• E83.89Other disorders of mineral metabolism
• E83.9Disorder of mineral metabolism, unspecified
• E88.01Alpha-1-antitrypsin deficiency
• E88.10Lipodystrophy, unspecified
• E88.11Partial lipodystrophy
• E88.12Generalized lipodystrophy
• E88.13Localized lipodystrophy
• E88.14HIV-associated lipodystrophy
• E88.19Other lipodystrophy, not elsewhere classified
• E88.2Lipomatosis, not elsewhere classified
• E88.40Mitochondrial metabolism disorder, unspecified
• E88.41MELAS syndrome
• E88.42MERRF syndrome
• E88.43Disorders of mitochondrial tRNA synthetases
• E88.49Other mitochondrial metabolism disorders
• E88.810Metabolic syndrome
• E88.811Insulin resistance syndrome, Type A
• E88.818Other insulin resistance
• E88.819Insulin resistance, unspecified
• E88.82Obesity due to disruption of MC4R pathway
• E88.89Other specified metabolic disorders
• E88.9Metabolic disorder, unspecified
• E88.AWasting disease (syndrome) due to underlying condition
• H49.811Kearns-Sayre syndrome, right eye
• H49.812Kearns-Sayre syndrome, left eye
• H49.813Kearns-Sayre syndrome, bilateral
• H49.819Kearns-Sayre syndrome, unspecified eye