Chapter IV

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Excludes: androgen resistance syndrome ( E34.5 )
congenital adrenal hyperplasia ( E25.0 )
Ehlers-Danlos syndrome ( Q79.6 )
haemolytic anaemias due to enzyme disorders ( D55.- )
Marfan's 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
E70.3 Albinism
· ocular
· oculocutaneous
· Chediak(-Steinbrinck)-Higashi
· Cross
· Hermansky-Pudlak
E70.8 Other disorders of aromatic amino-acid metabolism
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
Isovaleric acidaemia
Methylmalonic acidaemia
Propionic acidaemia
E71.2 Disorder of branched-chain amino-acid metabolism, unspecified
E71.3 Disorders of fatty-acid metabolism
Adrenoleukodystrophy [Addison-Schilder]
Muscle carnitine palmityltransferase deficiency
Excludes: Schilder's disease ( G37.0 )

E72 Other disorders of amino-acid metabolism
Excludes: 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
Fanconi(-de Toni)(-Debré) syndrome
Hartnup's disease
Lowe's syndrome
Excludes: disorders of tryptophan metabolism ( E70.8 )
E72.1 Disorders of sulfur-bearing amino-acid metabolism
Sulfite oxidase deficiency
Excludes: transcobalamin II deficiency ( D51.2 )
E72.2 Disorders of urea cycle metabolism
Argininosuccinic aciduria
Excludes: disorders of ornithine metabolism ( E72.4 )
E72.3 Disorders of lysine and hydroxylysine metabolism
Glutaric aciduria
Excludes: Refsum's disease ( G60.1 )
Zellweger's syndrome ( Q87.8 )
E72.4 Disorders of ornithine metabolism
Ornithinaemia (types I, II)
E72.5 Disorders of glycine metabolism
Hyperprolinaemia (types I, II)
Non-ketotic hyperglycinaemia
E72.8 Other specified disorders of amino-acid metabolism
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
Excludes: increased secretion of glucagon ( E16.3 )
diabetes mellitus ( E10-E14 )
hypoglycaemia NOS ( E16.2 )
mucopolysaccharidosis ( E76.0-E76.3 )
E74.0 Glycogen storage disease
Cardiac glycogenosis
· Andersen
· Cori
· Forbes
· Hers
· McArdle
· Pompe
· Tauri
· von Gierke
Liver phosphorylase deficiency
E74.1 Disorders of fructose metabolism
Essential fructosuria
Fructose-1,6-diphosphatase deficiency
Hereditary fructose intolerance
E74.2 Disorders of galactose metabolism
Galactokinase deficiency
E74.3 Other disorders of intestinal carbohydrate absorption
Glucose-galactose malabsorption
Sucrase deficiency
Excludes: lactose intolerance ( E73.- )
E74.4 Disorders of pyruvate metabolism and gluconeogenesis
Deficiency of:
· phosphoenolpyruvate carboxykinase
· pyruvate:
  · carboxylase
  · dehydrogenase
Excludes: with anaemia ( D55.- )
E74.8 Other specified disorders of carbohydrate metabolism
Essential pentosuria
Renal glycosuria
E74.9 Disorder of carbohydrate metabolism, unspecified

E75 Disorders of sphingolipid metabolism and other lipid storage disorders
Excludes: mucolipidosis, types I-III ( E77.0-E77.1 )
Refsum's disease ( G60.1 )
E75.0 GM 2 gangliosidosis
· Sandhoff
· Tay-Sachs
GM 2 gangliosidosis:
· adult
· juvenile
E75.1 Other gangliosidosis
· GM 1
· GM 3
Mucolipidosis IV
E75.2 Other sphingolipidosis
· Fabry(-Anderson)
· Gaucher
· Krabbe
· Niemann-Pick
Farber's syndrome
Metachromatic leukodystrophy
Sulfatase deficiency
Excludes: adrenoleukodystrophy [Addison-Schilder] ( E71.3 )
E75.3 Sphingolipidosis, unspecified
E75.4 Neuronal ceroid lipofuscinosis
· Batten
· Bielschowsky-Jansky
· Kufs
· Spielmeyer-Vogt
E75.5 Other lipid storage disorders
Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
Wolman's disease
E75.6 Lipid storage disorder, unspecified

E76 Disorders of glycosaminoglycan metabolism
E76.0 Mucopolysaccharidosis, type I
· Hurler
· Hurler-Scheie
· Scheie
E76.1 Mucopolysaccharidosis, type II
Hunter's syndrome
E76.2 Other mucopolysaccharidoses
Beta-glucuronidase deficiency
Mucopolysaccharidosis, types III, IV, VI, VII
· 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
Mucolipidosis II [I-cell disease]
Mucolipidosis III [pseudo-Hurler polydystrophy]
E77.1 Defects in glycoprotein degradation
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
Excludes: sphingolipidosis ( E75.0-E75.3 )
E78.0 Pure hypercholesterolaemia
Familial hypercholesterolaemia
Fredrickson's hyperlipoproteinaemia, type IIa
Hyperlipidaemia, group A
Low-density-lipoprotein-type [LDL] hyperlipoproteinaemia
E78.1 Pure hyperglyceridaemia
Endogenous hyperglyceridaemia
Fredrickson's hyperlipoproteinaemia, type IV
Hyperlipidaemia, group B
Very-low-density-lipoprotein-type [VLDL] hyperlipoproteinaemia
E78.2 Mixed hyperlipidaemia
Broad- or floating-betalipoproteinaemia
Fredrickson's hyperlipoproteinaemia, type IIb or III
Hyperbetalipoproteinaemia with prebetalipoproteinaemia
Hypercholesterolaemia with endogenous hyperglyceridaemia
Hyperlipidaemia, group C
Tubero-eruptive xanthoma
Xanthoma tuberosum
Excludes: cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein] ( E75.5 )
E78.3 Hyperchylomicronaemia
Fredrickson's hyperlipoproteinaemia, type I or V
Hyperlipidaemia, group D
Mixed hyperglyceridaemia
E78.4 Other hyperlipidaemia
Familial combined hyperlipidaemia
E78.5 Hyperlipidaemia, unspecified
E78.6 Lipoprotein deficiency
High-density lipoprotein deficiency
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
Excludes: 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
Asymptomatic hyperuricaemia
E79.1 Lesch-Nyhan syndrome
E79.8 Other disorders of purine and pyrimidine metabolism
Hereditary xanthinuria
E79.9 Disorder of purine and pyrimidine metabolism, unspecified

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

E83 Disorders of mineral metabolism
Excludes: dietary mineral deficiency ( E58-E61 )
parathyroid disorders ( E20-E21 )
vitamin D deficiency ( E55.- )
E83.0 Disorders of copper metabolism
Menkes' (kinky hair)(steely hair) disease
Wilson's disease
E83.1 Disorders of iron metabolism
Excludes: anaemia:
· iron deficiency ( D50.- )
· sideroblastic ( D64.0-D64.3 )
E83.2 Disorders of zinc metabolism
Acrodermatitis enteropathica
E83.3 Disorders of phosphorus metabolism
Acid phosphatase deficiency
Familial hypophosphataemia
· osteomalacia
· rickets
Excludes: adult osteomalacia ( M83.- )
osteoporosis ( M80-M81 )
E83.4 Disorders of magnesium metabolism
E83.5 Disorders of calcium metabolism
Familial hypocalciuric hypercalcaemia
Idiopathic hypercalciuria
Excludes: 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
Includes: mucoviscidosis
E84.0 Cystic fibrosis with pulmonary manifestations
E84.1 Cystic fibrosis with intestinal manifestations
Meconium ileus+ ( P75* )
Excludes: meconium obstruction in cases where cystic fibrosis is known not to be present ( P76.0 )
E84.8 Cystic fibrosis with other manifestations
Cystic fibrosis with combined manifestations
E84.9 Cystic fibrosis, unspecified

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

E86 Volume depletion
Depletion of volume of plasma or extracellular fluid
Excludes: dehydration of newborn ( P74.1 )
hypovolaemic shock:
· NOS ( R57.1 )
· postoperative ( T81.1 )
· traumatic ( T79.4 )

E87 Other disorders of fluid, electrolyte and acid-base balance
E87.0 Hyperosmolality and hypernatraemia
Sodium [Na] excess
Sodium [Na] overload
E87.1 Hypo-osmolality and hyponatraemia
Sodium [Na] deficiency
Excludes: Syndrome of inappropriate secretion of antidiuretic hormone ( E22.2 )
E87.2 Acidosis
· lactic
· metabolic
· respiratory
Excludes: diabetic acidosis ( E10-E14 with common fourth character .1)

E87.3 Alkalosis
· metabolic
· respiratory
E87.4 Mixed disorder of acid-base balance
E87.5 Hyperkalaemia
Potassium [K] excess
Potassium [K] overload
E87.6 Hypokalaemia
Potassium [K] deficiency
E87.7 Fluid overload
Excludes: oedema ( R60.- )
E87.8 Other disorders of electrolyte and fluid balance, not elsewhere classified
Electrolyte imbalance NOS

E88 Other metabolic disorders
Use additional external cause code (Chapter XX), if desired, to identify drug, if drug-induced.
Excludes: histiocytosis X (chronic) ( D76.0 )
E88.0 Disorders of plasma-protein metabolism, not elsewhere classified
Alpha-1-antitrypsin deficiency
Excludes: disorder of lipoprotein metabolism ( E78.- )
monoclonal gammopathy ( D47.2 )
polyclonal hypergammaglobulinaemia ( D89.0 )
Waldenström's macroglobulinaemia ( C88.0 )
E88.1 Lipodystrophy, not elsewhere classified
Lipodystrophy NOS
Excludes: Whipple's disease ( K90.8 )
E88.2 Lipomatosis, not elsewhere classified
· dolorosa [Dercum]
E88.8 Other specified metabolic disorders
Launois-Bensaude adenolipomatosis
E88.9 Metabolic disorder, unspecified

E89 Postprocedural endocrine and metabolic disorders, not elsewhere classified
E89.0 Postprocedural hypothyroidism
Postirradiation hypothyroidism
Postsurgical hypothyroidism
E89.1 Postprocedural hypoinsulinaemia
Postpancreatectomy hyperglycaemia
Postsurgical hypoinsulinaemia
E89.2 Postprocedural hypoparathyroidism
Parathyroprival tetany
E89.3 Postprocedural hypopituitarism
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