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)
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 aromatic amino-acid metabolism (E70)
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
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism (E71)
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 amino-acid metabolism (E72)
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
Other disorders of carbohydrate metabolism (E74)
E75 Disorders of sphingolipid metabolism and other lipid storage disorders
E75.0 GM2 gangliosidosis
- E75.00 GM2 gangliosidosis, unspecified
- E75.01 Sandhoff disease
- E75.02 Tay-Sachs disease
- E75.09 Other GM2 gangliosidosis
E75.1 Other and unspecified gangliosidosis
- E75.10 Unspecified gangliosidosis
- E75.11 Mucolipidosis IV
- E75.19 Other gangliosidosis
E75.2 Other sphingolipidosis
- E75.21 Fabry (-Anderson) disease
- E75.22 Gaucher disease
- E75.23 Krabbe disease
E75.24 Niemann-Pick 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
- E75.25 Metachromatic leukodystrophy
- E75.26 Sulfatase deficiency
- E75.27 Pelizaeus-Merzbacher disease NEW CODE
- E75.28 Canavan disease NEW CODE
- E75.29 Other sphingolipidosis
- E75.3 Sphingolipidosis, unspecified
- E75.4 Neuronal ceroid lipofuscinosis
- E75.5 Other lipid storage disorders
- E75.6 Lipid storage disorder, unspecified
Disorders of sphingolipid metabolism and other lipid storage disorders (E75)
E76 Disorders of glycosaminoglycan metabolism
E76.0 Mucopolysaccharidosis, type I
- E76.01 Hurler's syndrome
- E76.02 Hurler-Scheie syndrome
- E76.03 Scheie's syndrome
- E76.1 Mucopolysaccharidosis, type II
E76.2 Other mucopolysaccharidoses
E76.21 Morquio mucopolysaccharidoses
- 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
Disorders of glycosaminoglycan metabolism (E76)
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 lipoprotein metabolism and other lipidemias (E78)
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 purine and pyrimidine metabolism (E79)
E80 Disorders of porphyrin and bilirubin metabolism
- E80.0 Hereditary erythropoietic porphyria
- E80.1 Porphyria cutanea tarda
E80.2 Other and unspecified porphyria
- E80.20 Unspecified porphyria
- E80.21 Acute intermittent (hepatic) porphyria
- E80.29 Other porphyria
- E80.3 Defects of catalase and peroxidase
- E80.4 Gilbert syndrome
- E80.5 Crigler-Najjar syndrome
- E80.6 Other disorders of bilirubin metabolism
- E80.7 Disorder of bilirubin metabolism, unspecified
Disorders of porphyrin and bilirubin metabolism (E80)
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
Disorders of mineral metabolism (E83)
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
Cystic fibrosis (E84)
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
Amyloidosis (E85)
E86 Volume depletion
- E86.0 Dehydration
- E86.1 Hypovolemia
- E86.9 Volume depletion, unspecified
Volume depletion (E86)
E87 Other disorders of fluid, electrolyte and acid-base balance
- E87.0 Hyperosmolality and hypernatremia
- E87.1 Hypo-osmolality and hyponatremia
E87.2 Acidosis
- E87.20 Acidosis, unspecified
- E87.21 Acute metabolic acidosis
- E87.22 Chronic metabolic acidosis
- E87.29 Other acidosis
- E87.3 Alkalosis
- E87.4 Mixed disorder of acid-base balance
- E87.5 Hyperkalemia
- E87.6 Hypokalemia
E87.7 Fluid overload
- E87.70 Fluid overload, unspecified
- E87.71 Transfusion associated circulatory overload
- E87.79 Other fluid overload
- E87.8 Other disorders of electrolyte and fluid balance, not elsewhere classified
Other disorders of fluid, electrolyte and acid-base balance (E87)
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
Other and unspecified metabolic disorders (E88)