Chapter IV
Endocrine, nutritional and metabolic diseases
(E00-E90)

Rules Conventions GCS

Metabolic disorders
(E70-E90)

Excl.:
androgen resistance syndrome ( E34.5)
congenital adrenal hyperplasia ( E25.0)
Ehlers-Danlos syndrome ( Q79.6)
haemolytic anaemias due to enzyme disorders ( D55.-)
Marfan syndrome ( Q87.4)
5-alpha-reductase deficiency ( E29.1)

E70 Disorders of aromatic amino-acid metabolism

E70.0 Classical phenylketonuria
E70.1 Other hyperphenylalaninaemias
E70.2 Disorders of tyrosine metabolism
Incl.:
Alkaptonuria
Hypertyrosinaemia
Ochronosis
Tyrosinaemia
Tyrosinosis
E70.3 Albinism
Incl.:
Albinism:
  • ocular
  • oculocutaneous
Syndrome:
  • Chediak(-Steinbrinck)-Higashi
  • Cross
  • Hermansky-Pudlak
E70.8 Other disorders of aromatic amino-acid metabolism
Incl.:
Disorders of:
  • histidine metabolism
  • tryptophan metabolism
E70.9 Disorder of aromatic amino-acid metabolism, unspecified

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
Incl.:
Hyperleucine-isoleucinaemia
Hypervalinaemia
Isovaleric acidaemia
Methylmalonic acidaemia
Propionic acidaemia
E71.2 Disorder of branched-chain amino-acid metabolism, unspecified
E71.3 Disorders of fatty-acid metabolism
DCS.IV.4
Incl.:
Adrenoleukodystrophy [Addison-Schilder]
Muscle carnitine palmityltransferase deficiency
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
Excl.:
Schilder disease ( G37.0)

E72 Other disorders of amino-acid metabolism

Excl.:
abnormal findings without manifest disease ( R70-R89)
disorders of:
  • aromatic amino-acid metabolism (E70.-)
  • branched-chain amino-acid metabolism (E71.0-E71.2)
  • fatty-acid metabolism (E71.3)
  • purine and pyrimidine metabolism (E79.-)
gout ( M10.-)
E72.0 Disorders of amino-acid transport
Incl.:
Cystine storage disease† ( N29.8*)
Cystinosis
Cystinuria
Fanconi(-de Toni)(-Debré) syndrome
Hartnup disease
Lowe syndrome
Excl.:
disorders of tryptophan metabolism ( E70.8)
E72.1 Disorders of sulfur-bearing amino-acid metabolism
Incl.:
Cystathioninuria
Homocystinuria
Methioninaemia
Sulfite oxidase deficiency
Excl.:
transcobalamin II deficiency ( D51.2)
E72.2 Disorders of urea cycle metabolism
Incl.:
Argininaemia
Argininosuccinic aciduria
Citrullinaemia
Hyperammonaemia
Excl.:
disorders of ornithine metabolism ( E72.4)
E72.3 Disorders of lysine and hydroxylysine metabolism
Incl.:
Glutaric aciduria
Hydroxylysinaemia
Hyperlysinaemia
Excl.:
Refsum disease ( G60.1)
Zellweger syndrome ( Q87.8)
E72.4 Disorders of ornithine metabolism
Incl.:
Ornithinaemia (types I, II)
E72.5 Disorders of glycine metabolism
Incl.:
Hyperhydroxyprolinaemia
Hyperprolinaemia (types I, II)
Non-ketotic hyperglycinaemia
Sarcosinaemia
E72.8 Other specified disorders of amino-acid metabolism
Incl.:
Disorders of:
  • Beta-amino-acid metabolism
  • Gamma-glutamyl cycle
E72.9 Disorder of amino-acid metabolism, unspecified

E73 Lactose intolerance

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

E74 Other disorders of carbohydrate metabolism

Excl.:
increased secretion of glucagon ( E16.3)
diabetes mellitus ( E10-E14)
hypoglycaemia NOS ( E16.2)
mucopolysaccharidosis ( E76.0-E76.3)
E74.0 Glycogen storage disease
Incl.:
Cardiac glycogenosis
Disease:
  • Andersen
  • Cori
  • Forbes
  • Hers
  • McArdle
  • Pompe
  • Tarui
  • Tauri
  • von Gierke
Liver phosphorylase deficiency
E74.1 Disorders of fructose metabolism
Incl.:
Essential fructosuria
Fructose-1,6-diphosphatase deficiency
Hereditary fructose intolerance
E74.2 Disorders of galactose metabolism
Incl.:
Galactokinase deficiency
Galactosaemia
E74.3 Other disorders of intestinal carbohydrate absorption
Incl.:
Glucose-galactose malabsorption
Sucrase deficiency
Excl.:
lactose intolerance ( E73.-)
E74.4 Disorders of pyruvate metabolism and gluconeogenesis
Incl.:
Deficiency of:
  • phosphoenolpyruvate carboxykinase
  • pyruvate:
    • —  carboxylase
    • —  dehydrogenase
Excl.:
with anaemia ( D55.-)
E74.8 Other specified disorders of carbohydrate metabolism
Incl.:
Essential pentosuria
Oxalosis
Oxaluria
Renal glycosuria
E74.9 Disorder of carbohydrate metabolism, unspecified

E75 Disorders of sphingolipid metabolism and other lipid storage disorders

Excl.:
mucolipidosis, types I-III ( E77.0-E77.1)
Refsum disease ( G60.1)
E75.0 GM2 gangliosidosis
Incl.:
Disease:
  • Sandhoff
  • Tay-Sachs
GM 2 gangliosidosis:
  • NOS
  • adult
  • juvenile
E75.1 Other gangliosidosis
Incl.:
Gangliosidosis:
  • NOS
  • GM1
  • GM3
Mucolipidosis IV
E75.2 Other sphingolipidosis
Incl.:
Disease:
  • Fabry(-Anderson)
  • Gaucher
  • Krabbe
  • Niemann-Pick
Farber syndrome
Metachromatic leukodystrophy
Sulfatase deficiency
Excl.:
adrenoleukodystrophy [Addison-Schilder] ( E71.3)
E75.3 Sphingolipidosis, unspecified
E75.4 Neuronal ceroid lipofuscinosis
Incl.:
Disease:
  • Batten
  • Bielschowsky-Jansky
  • Kufs
  • Spielmeyer-Vogt
E75.5 Other lipid storage disorders
Incl.:
Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
Wolman disease
E75.6 Lipid storage disorder, unspecified

E76 Disorders of glycosaminoglycan metabolism

E76.0 Mucopolysaccharidosis, type I
Incl.:
Syndrome:
  • Hurler
  • Hurler-Scheie
  • Scheie
E76.1 Mucopolysaccharidosis, type II
Incl.:
Hunter syndrome
E76.2 Other mucopolysaccharidoses
Incl.:
Beta-glucuronidase deficiency
Mucopolysaccharidosis, types III, IV, VI, VII
Syndrome:
  • Maroteaux-Lamy (mild)(severe)
  • Morquio(-like)(classic)
  • Sanfilippo (type B)(type C)(type D)
E76.3 Mucopolysaccharidosis, unspecified
E76.8 Other disorders of glucosaminoglycan metabolism
E76.9 Disorder of glucosaminoglycan metabolism, unspecified

E77 Disorders of glycoprotein metabolism

E77.0 Defects in post-translational modification of lysosomal enzymes
Incl.:
Mucolipidosis II [I-cell disease]
Mucolipidosis III [pseudo-Hurler polydystrophy]
E77.1 Defects in glycoprotein degradation
Incl.:
Aspartylglucosaminuria
Fucosidosis
Mannosidosis
Sialidosis [mucolipidosis I]
E77.8 Other disorders of glycoprotein metabolism
E77.9 Disorder of glycoprotein metabolism, unspecified

E78 Disorders of lipoprotein metabolism and other lipidaemias

Excl.:
sphingolipidosis ( E75.0-E75.3)
E78.0 Pure hypercholesterolaemia
DCS.IV.5
Incl.:
Familial hypercholesterolaemia
Fredrickson hyperlipoproteinaemia, type IIa
Hyperbetalipoproteinaemia
Hyperlipidaemia, group A
Low-density-lipoprotein-type [LDL] hyperlipoproteinaemia
E78.1 Pure hyperglyceridaemia
Incl.:
Endogenous hyperglyceridaemia
Fredrickson hyperlipoproteinaemia, type IV
Hyperlipidaemia, group B
Hyperprebetalipoproteinaemia
Very-low-density-lipoprotein-type [VLDL] hyperlipoproteinaemia
E78.2 Mixed hyperlipidaemia
Incl.:
Broad- or floating-betalipoproteinaemia
Fredrickson hyperlipoproteinaemia, type IIb or III
Hyperbetalipoproteinaemia with prebetalipoproteinaemia
Hypercholesterolaemia with endogenous hyperglyceridaemia
Hyperlipidaemia, group C
Tubero-eruptive xanthoma
Xanthoma tuberosum
Excl.:
cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein] ( E75.5)
E78.3 Hyperchylomicronaemia
Incl.:
Fredrickson hyperlipoproteinaemia, type I or V
Hyperlipidaemia, group D
Mixed hyperglyceridaemia
E78.4 Other hyperlipidaemia
Incl.:
Familial combined hyperlipidaemia
E78.5 Hyperlipidaemia, unspecified
E78.6 Lipoprotein deficiency
Incl.:
Abetalipoproteinaemia
High-density lipoprotein deficiency
Hypoalphalipoproteinaemia
Hypobetalipoproteinaemia (familial)
Lecithin cholesterol acyltransferase deficiency
Tangier disease
E78.8 Other disorders of lipoprotein metabolism
E78.9 Disorder of lipoprotein metabolism, unspecified

E79 Disorders of purine and pyrimidine metabolism

Excl.:
calculus of kidney ( N20.0)
combined immunodeficiency disorders ( D81.-)
gout ( M10.-)
orotaciduric anaemia ( D53.0)
xeroderma pigmentosum ( Q82.1)
E79.0 Hyperuricaemia without signs of inflammatory arthritis and tophaceous disease
Incl.:
Asymptomatic hyperuricaemia
E79.1 Lesch-Nyhan syndrome
E79.8 Other disorders of purine and pyrimidine metabolism
Incl.:
Hereditary xanthinuria
E79.9 Disorder of purine and pyrimidine metabolism, unspecified

E80 Disorders of porphyrin and bilirubin metabolism

Incl.:
defects of catalase and peroxidase
E80.0 Hereditary erythropoietic porphyria
Incl.:
Congenital erythropoietic porphyria
Erythropoietic protoporphyria
E80.1 Porphyria cutanea tarda
E80.2 Other porphyria
Incl.:
Hereditary coproporphyria
Porphyria:
  • NOS
  • acute intermittent (hepatic)
Coding-Hint
Use additional external cause code (Chapter XX), if desired, to identify cause.
E80.3 Defects of catalase and peroxidase
Incl.:
Acatalasia [Takahara]
E80.4 Gilbert syndrome
E80.5 Crigler-Najjar syndrome
E80.6 Other disorders of bilirubin metabolism
Incl.:
Dubin-Johnson syndrome
Rotor syndrome
E80.7 Disorder of bilirubin metabolism, unspecified

E83 Disorders of mineral metabolism

Excl.:
dietary mineral deficiency ( E58-E61)
parathyroid disorders ( E20-E21)
vitamin D deficiency ( E55.-)
E83.0 Disorders of copper metabolism
Incl.:
Menkes (kinky hair)(steely hair) disease
Wilson disease
E83.1 Disorders of iron metabolism
Incl.:
Haemochromatosis
Excl.:
anaemia:
E83.2 Disorders of zinc metabolism
Incl.:
Acrodermatitis enteropathica
E83.3 Disorders of phosphorus metabolism and phosphatases
Incl.:
Acid phosphatase deficiency
Familial hypophosphataemia
Hypophosphatasia
Vitamin-D-resistant:
  • osteomalacia
  • rickets
Excl.:
adult osteomalacia ( M83.-)
osteoporosis ( M80-M81)
E83.4 Disorders of magnesium metabolism
Incl.:
Hypermagnesaemia
Hypomagnesaemia
E83.5 Disorders of calcium metabolism
Incl.:
Familial hypocalciuric hypercalcaemia
Idiopathic hypercalciuria
Excl.:
chondrocalcinosis ( M11.1-M11.2)
hyperparathyroidism ( E21.0-E21.3)
E83.8 Other disorders of mineral metabolism
E83.9 Disorder of mineral metabolism, unspecified

E84 Cystic fibrosis
DCS.IV.6

Incl.:
mucoviscidosis
E84.0 Cystic fibrosis with pulmonary manifestations
E84.1 Cystic fibrosis with intestinal manifestations
Incl.:
Distal intestinal obstruction syndrome
Meconium ileus in cystic fibrosis† ( P75*)
Excl.:
meconium obstruction (ileus) in cases where cystic fibrosis is known not to be present ( P76.0)
E84.8 Cystic fibrosis with other manifestations
E84.9 Cystic fibrosis, unspecified

E85 Amyloidosis

Excl.:
Alzheimer disease ( G30.-)
E85.0 Non-neuropathic heredofamilial amyloidosis
Incl.:
Familial Mediterranean fever
Hereditary amyloid nephropathy
E85.1 Neuropathic heredofamilial amyloidosis
Incl.:
Amyloid polyneuropathy (Portuguese)
E85.2 Heredofamilial amyloidosis, unspecified
E85.3 Secondary systemic amyloidosis
Incl.:
Haemodialysis-associated amyloidosis
E85.4 Organ-limited amyloidosis
Incl.:
Localized amyloidosis
E85.8 Other amyloidosis
E85.9 Amyloidosis, unspecified

E86 Volume depletion
DCS.IV.7

Incl.:
Dehydration
Depletion of volume of plasma or extracellular fluid
Hypovolaemia
Excl.:
dehydration of newborn ( P74.1)
hypovolaemic shock:

E87 Other disorders of fluid, electrolyte and acid-base balance

E87.0 Hyperosmolality and hypernatraemia
DCS.IV.1
Incl.:
Sodium [Na] excess
Sodium [Na] overload
E87.1 Hypo-osmolality and hyponatraemia
Incl.:
Sodium [Na] deficiency
Excl.:
Syndrome of inappropriate secretion of antidiuretic hormone ( E22.2)
E87.2 Acidosis
Incl.:
Acidosis:
  • NOS
  • lactic
  • metabolic
  • respiratory
Excl.:
diabetic acidosis ( E10-E14 with common fourth character .1)
E87.3 Alkalosis
Incl.:
Alkalosis:
  • NOS
  • metabolic
  • respiratory
E87.4 Mixed disorder of acid-base balance
E87.5 Hyperkalaemia
Incl.:
Potassium [K] excess
Potassium [K] overload
E87.6 Hypokalaemia
Incl.:
Potassium [K] deficiency
E87.7 Fluid overload
Excl.:
oedema ( R60.-)
E87.8 Other disorders of electrolyte and fluid balance, not elsewhere classified
Incl.:
Electrolyte imbalance NOS
Hyperchloraemia
Hypochloraemia

E88 Other metabolic disorders

Coding-Hint
Use additional external cause code (Chapter XX), if desired, to identify drug, if drug-induced.
Excl.:
histiocytosis X (chronic) ( C96.6)
E88.0 Disorders of plasma-protein metabolism, not elsewhere classified
Incl.:
Alpha-1-antitrypsin deficiency
Bisalbuminaemia
Excl.:
disorder of lipoprotein metabolism ( E78.-)
monoclonal gammopathy of undetermined significance (MGUS) ( D47.2)
polyclonal hypergammaglobulinaemia ( D89.0)
Waldenström macroglobulinaemia ( C88.0)
E88.1 Lipodystrophy, not elsewhere classified
Incl.:
Lipodystrophy NOS
Excl.:
Whipple disease ( K90.8)
E88.2 Lipomatosis, not elsewhere classified
Incl.:
Lipomatosis:
  • NOS
  • dolorosa [Dercum]
E88.3 Tumour lysis syndrome
Incl.:
Tumour lysis (following antineoplastic drug therapy)(spontaneous)
E88.8 Other specified metabolic disorders
Incl.:
Launois-Bensaude adenolipomatosis
Trimethylaminuria
E88.9 Metabolic disorder, unspecified

E89 Postprocedural endocrine and metabolic disorders, not elsewhere classified
DCS.XIX.7 DFigure.XIX.1

E89.0 Postprocedural hypothyroidism
Incl.:
Postirradiation hypothyroidism
Postsurgical hypothyroidism
E89.1 Postprocedural hypoinsulinaemia
Incl.:
Postpancreatectomy hyperglycaemia
Postsurgical hypoinsulinaemia
E89.2 Postprocedural hypoparathyroidism
Incl.:
Parathyroprival tetany
E89.3 Postprocedural hypopituitarism
Incl.:
Postirradiation hypopituitarism
E89.4 Postprocedural ovarian failure
E89.5 Postprocedural testicular hypofunction
E89.6 Postprocedural adrenocortical(-medullary) hypofunction
E89.8 Other postprocedural endocrine and metabolic disorders
E89.9 Postprocedural endocrine and metabolic disorder, unspecified

E90* Nutritional and metabolic disorders in diseases classified elsewhere