Metabolic disorders (E70-E88)

Browse all the diagnosis codes used for metabolic disorders (e70-e88). For easy navigation, the diagnosis codes are sorted in alphabetical order and grouped by sections. Each section is clearly marked with its description, and the corresponding three-digit code range. This format makes it simple to browse diagnosis codes in this chapter or section and find what you're looking for. We've also added green checkmark icons to label billable codes, and red warning icons for non-billable ones. This makes it easy to identify which codes can be billed.

Instructional Notations

Type 1 Excludes

A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.

  • androgen insensitivity syndrome E34.5
  • congenital adrenal hyperplasia E25.0
  • hemolytic anemias attributable to enzyme disorders D55
  • Marfan syndrome Q87.4
  • 5-alpha-reductase deficiency E29.1

Type 2 Excludes

A type 2 excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.

  • Ehlers-Danlos syndromes Q79.6
  • Endocrine, nutritional and metabolic diseases (E00–E89)

    • Metabolic disorders (E70-E88)

        • Disorders of aromatic amino-acid metabolism (E70)

        • E70 Disorders of aromatic amino-acid metabolism
        • E70.0 Classical phenylketonuria
        • E70.1 Other hyperphenylalaninemias
        • E70.2 Disorders of tyrosine metabolism
        • E70.20 Disorder of tyrosine metabolism, unspecified
        • E70.21 Tyrosinemia
        • E70.29 Other disorders of tyrosine metabolism
        • E70.3 Albinism
        • E70.30 Albinism, unspecified
        • E70.31 Ocular albinism
        • E70.310 X-linked ocular albinism
        • E70.311 Autosomal recessive ocular albinism
        • E70.318 Other ocular albinism
        • E70.319 Ocular albinism, unspecified
        • E70.32 Oculocutaneous albinism
        • E70.320 Tyrosinase negative oculocutaneous albinism
        • E70.321 Tyrosinase positive oculocutaneous albinism
        • E70.328 Other oculocutaneous albinism
        • E70.329 Oculocutaneous albinism, unspecified
        • E70.33 Albinism with hematologic abnormality
        • 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
        • E70.4 Disorders of histidine metabolism
        • 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
        • E70.81 Aromatic L-amino acid decarboxylase deficiency
        • E70.89 Other disorders of aromatic amino-acid metabolism
        • E70.9 Disorder of aromatic amino-acid metabolism, unspecified
        • Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism (E71)

        • E71 Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
        • E71.0 Maple-syrup-urine disease
        • E71.1 Other disorders of branched-chain amino-acid metabolism
        • E71.11 Branched-chain organic acidurias
        • E71.110 Isovaleric acidemia
        • E71.111 3-methylglutaconic aciduria
        • E71.118 Other branched-chain organic acidurias
        • E71.12 Disorders of propionate metabolism
        • 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
        • E71.3 Disorders of fatty-acid metabolism
        • E71.30 Disorder of fatty-acid metabolism, unspecified
        • E71.31 Disorders of fatty-acid oxidation
        • 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
        • E71.4 Disorders of carnitine 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
        • E71.44 Other secondary carnitine deficiency
        • E71.440 Ruvalcaba-Myhre-Smith syndrome
        • E71.448 Other secondary carnitine deficiency
        • E71.5 Peroxisomal disorders
        • E71.50 Peroxisomal disorder, unspecified
        • E71.51 Disorders of peroxisome biogenesis
        • E71.510 Zellweger syndrome
        • E71.511 Neonatal adrenoleukodystrophy
        • E71.518 Other disorders of peroxisome biogenesis
        • E71.52 X-linked adrenoleukodystrophy
        • 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
        • E71.54 Other peroxisomal disorders
        • E71.540 Rhizomelic chondrodysplasia punctata
        • E71.541 Zellweger-like syndrome
        • E71.542 Other group 3 peroxisomal disorders
        • E71.548 Other peroxisomal disorders
        • Other disorders of amino-acid metabolism (E72)

        • E72 Other disorders of amino-acid metabolism
        • E72.0 Disorders of amino-acid transport
        • 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
        • E72.1 Disorders of sulfur-bearing amino-acid metabolism
        • 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
        • E72.2 Disorders of urea cycle 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
        • E72.5 Disorders of glycine 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
        • E72.8 Other specified disorders of amino-acid 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
        • Other disorders of carbohydrate metabolism (E74)

        • E74 Other disorders of carbohydrate metabolism
        • E74.0 Glycogen storage disease
        • 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 NEW CODE
        • E74.09 Other glycogen storage disease
        • E74.1 Disorders of fructose metabolism
        • E74.10 Disorder of fructose metabolism, unspecified
        • E74.11 Essential fructosuria
        • E74.12 Hereditary fructose intolerance
        • E74.19 Other disorders of fructose metabolism
        • E74.2 Disorders of galactose metabolism
        • E74.20 Disorders of galactose metabolism, unspecified
        • E74.21 Galactosemia
        • E74.29 Other disorders of galactose metabolism
        • E74.3 Other disorders of intestinal carbohydrate absorption
        • E74.31 Sucrase-isomaltase deficiency
        • E74.39 Other disorders of intestinal carbohydrate absorption
        • E74.4 Disorders of pyruvate metabolism and gluconeogenesis
        • E74.8 Other specified disorders of carbohydrate metabolism
        • E74.81 Disorders of glucose transport, not elsewhere classified
        • 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
        • Disorders of lipoprotein metabolism and other lipidemias (E78)

        • E78 Disorders of lipoprotein metabolism and other lipidemias
        • E78.0 Pure hypercholesterolemia
        • E78.00 Pure hypercholesterolemia, unspecified
        • E78.01 Familial hypercholesterolemia
        • E78.1 Pure hyperglyceridemia
        • E78.2 Mixed hyperlipidemia
        • E78.3 Hyperchylomicronemia
        • E78.4 Other hyperlipidemia
        • E78.41 Elevated Lipoprotein(a)
        • E78.49 Other hyperlipidemia
        • E78.5 Hyperlipidemia, unspecified
        • E78.6 Lipoprotein deficiency
        • E78.7 Disorders of bile acid and cholesterol metabolism
        • E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
        • E78.71 Barth syndrome
        • E78.72 Smith-Lemli-Opitz syndrome
        • E78.79 Other disorders of bile acid and cholesterol metabolism
        • E78.8 Other disorders of lipoprotein metabolism
        • E78.81 Lipoid dermatoarthritis
        • E78.89 Other lipoprotein metabolism disorders
        • E78.9 Disorder of lipoprotein metabolism, unspecified
        • Disorders of purine and pyrimidine metabolism (E79)

        • E79 Disorders of purine and pyrimidine metabolism
        • E79.0 Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
        • E79.1 Lesch-Nyhan syndrome
        • E79.2 Myoadenylate deaminase deficiency
        • E79.8 Other disorders of purine and pyrimidine metabolism NEW CODE
        • E79.81 Aicardi-Goutieres syndrome NEW CODE
        • E79.82 Hereditary xanthinuria NEW CODE
        • E79.89 Other specified disorders of purine and pyrimidine metabolism NEW CODE
        • E79.9 Disorder of purine and pyrimidine metabolism, unspecified
        • Disorders of mineral metabolism (E83)

        • E83 Disorders of mineral metabolism
        • E83.0 Disorders of copper metabolism
        • E83.00 Disorder of copper metabolism, unspecified
        • E83.01 Wilson's disease
        • E83.09 Other disorders of copper metabolism
        • E83.1 Disorders of iron metabolism
        • E83.10 Disorder of iron metabolism, unspecified
        • E83.11 Hemochromatosis
        • 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
        • E83.2 Disorders of zinc metabolism
        • E83.3 Disorders of phosphorus metabolism and phosphatases
        • 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
        • E83.4 Disorders of magnesium metabolism
        • E83.40 Disorders of magnesium metabolism, unspecified
        • E83.41 Hypermagnesemia
        • E83.42 Hypomagnesemia
        • E83.49 Other disorders of magnesium metabolism
        • E83.5 Disorders of calcium metabolism
        • E83.50 Unspecified disorder of calcium metabolism
        • E83.51 Hypocalcemia
        • E83.52 Hypercalcemia
        • E83.59 Other disorders of calcium metabolism
        • E83.8 Other disorders of mineral metabolism
        • E83.81 Hungry bone syndrome
        • E83.89 Other disorders of mineral metabolism
        • E83.9 Disorder of mineral metabolism, unspecified
        • Cystic fibrosis (E84)

        • E84 Cystic fibrosis
        • E84.0 Cystic fibrosis with pulmonary manifestations
        • E84.1 Cystic fibrosis with intestinal manifestations
        • E84.11 Meconium ileus in cystic fibrosis
        • E84.19 Cystic fibrosis with other intestinal manifestations
        • E84.8 Cystic fibrosis with other manifestations
        • E84.9 Cystic fibrosis, unspecified
        • Amyloidosis (E85)

        • E85 Amyloidosis
        • E85.0 Non-neuropathic heredofamilial amyloidosis
        • E85.1 Neuropathic heredofamilial amyloidosis
        • E85.2 Heredofamilial amyloidosis, unspecified
        • E85.3 Secondary systemic amyloidosis
        • E85.4 Organ-limited amyloidosis
        • E85.8 Other amyloidosis
        • E85.81 Light chain (AL) amyloidosis
        • E85.82 Wild-type transthyretin-related (ATTR) amyloidosis
        • E85.89 Other amyloidosis
        • E85.9 Amyloidosis, unspecified
        • Other and unspecified metabolic disorders (E88)

        • E88 Other and unspecified metabolic disorders
        • E88.0 Disorders of plasma-protein metabolism, not elsewhere classified
        • E88.01 Alpha-1-antitrypsin deficiency
        • E88.02 Plasminogen deficiency
        • E88.09 Other disorders of plasma-protein metabolism, not elsewhere classified
        • E88.1 Lipodystrophy, not elsewhere classified
        • E88.2 Lipomatosis, not elsewhere classified
        • E88.3 Tumor lysis syndrome
        • E88.4 Mitochondrial metabolism disorders
        • E88.40 Mitochondrial metabolism disorder, unspecified
        • E88.41 MELAS syndrome
        • E88.42 MERRF syndrome
        • E88.43 Disorders of mitochondrial tRNA synthetases NEW CODE
        • E88.49 Other mitochondrial metabolism disorders
        • E88.8 Other specified metabolic disorders
        • E88.81 Metabolic syndrome and other insulin resistance NEW CODE
        • E88.810 Metabolic syndrome NEW CODE
        • E88.811 Insulin resistance syndrome, Type A NEW CODE
        • E88.818 Other insulin resistance NEW CODE
        • E88.819 Insulin resistance, unspecified NEW CODE
        • E88.89 Other specified metabolic disorders
        • E88.9 Metabolic disorder, unspecified
        • E88.A Wasting disease (syndrome) due to underlying condition NEW CODE