Section E70-E88 | Metabolic disorders

E70

Code hierarchy

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

E71

Code hierarchy

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

E72

Code hierarchy

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

E73

Code hierarchy

E73 Lactose intolerance
- E73.0 Congenital lactase deficiency
- E73.1 Secondary lactase deficiency
- E73.8 Other lactose intolerance
- E73.9 Lactose intolerance, unspecified

Lactose intolerance

E74

Code hierarchy

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
  - 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
  - E74.82 Disorders of citrate metabolism
    - E74.820 SLC13A5 Citrate Transporter Disorder
    - E74.829 Other disorders of citrate metabolism
  - E74.89 Other specified disorders of carbohydrate metabolism
- E74.9 Disorder of carbohydrate metabolism, unspecified

Other disorders of carbohydrate metabolism

E75

Code hierarchy

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
  - E75.28 Canavan disease
  - 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

E76

Code hierarchy

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

E77

Code hierarchy

E77 Disorders of glycoprotein metabolism
- 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

Disorders of glycoprotein metabolism

E78

Code hierarchy

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

E79

Code hierarchy

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
  - E79.81 Aicardi-Goutières syndrome
  - E79.82 Hereditary xanthinuria
  - E79.89 Other specified disorders of purine and pyrimidine metabolism
- E79.9 Disorder of purine and pyrimidine metabolism, unspecified

Disorders of purine and pyrimidine metabolism

E80

Code hierarchy

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

E83

Code hierarchy

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

E84

Code hierarchy

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

E85

Code hierarchy

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

E86

Code hierarchy

E86 Volume depletion
- E86.0 Dehydration
- E86.1 Hypovolemia
- E86.9 Volume depletion, unspecified

Volume depletion

E87

Code hierarchy

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

E88

Code hierarchy

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
  - E88.49 Other mitochondrial metabolism disorders
- E88.8 Other specified metabolic disorders
  - E88.81 Metabolic syndrome and other insulin resistance
    - E88.810 Metabolic syndrome
    - E88.811 Insulin resistance syndrome, Type A
    - E88.818 Other insulin resistance
    - E88.819 Insulin resistance, unspecified
  - E88.82 Obesity due to disruption of MC4R pathway
  - E88.89 Other specified metabolic disorders
- E88.9 Metabolic disorder, unspecified
- E88.A Wasting disease (syndrome) due to underlying condition

Other and unspecified metabolic disorders

Section E70-E88 Metabolic disorders E70-E88

Excludes-1 for E70-E88:

Excludes-2 for E70-E88:

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