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Jerryson Ameworgbe Gidisu, BSc. Med. Sci,  MBBS, MD, MS, PhD , FWAMS

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Endocrine, nutritional and metabolic diseases

(E73–E74) Carbohydrates

E73

Lactose intolerance

E74

Other disorders of carbohydrate metabolism

E74.0

Glycogen storage disease

Glycogen storage disease type I (von Gierke's disease)

Glycogen storage disease type II (Pompe's disease)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V (McArdle's disease)

E74.1

Disorders of fructose metabolism

Essential fructosuria

Fructose-1,6-diphosphatase deficiency

Hereditary fructose intolerance

E74.2

Disorders of galactose metabolism

Galactosaemia

Galactokinase deficiency

E74.3

Other disorders of intestinal carbohydrate absorption

Glucose-galactose malabsorption

Sucrase deficiency

E74.4

Disorders of pyruvate metabolism and gluconeogenesis

Deficiency of phosphoenolpyruvate carboxykinase

Deficiency of pyruvate carboxylase

Deficiency of pyruvate dehydrogenase

E74.8

Other specified disorders of carbohydrate metabolism

Essential pentosuria

Oxalosis

Oxaluria

Renal glycosuria

E74.9

Disorder of carbohydrate metabolism, unspecified

E75

Lipids

E75

Disorders of sphingolipid metabolism and other lipid storage disorders

E75.0

GM 2 gangliosidosis

Sandhoff disease

Tay-Sachs disease

E75.1

Other gangliosidosis

Mucolipidosis IV

E75.2

Other sphingolipidosis

E75.220

Gaucher's disease (ILDS)

E75.230

Niemann-Pick disease (ILDS)

E75.240

Farber's disease (ILDS)

E75.250

Fabry's disease (ILDS)

E75.3

Sphingolipidosis, unspecified

E75.4

Neuronal ceroid lipofuscinosis

Batten disease (Type 3)

Bielschowsky-Jansky disease (Type 2)

Kufs disease (Type 4)

Spielmeyer-Vogt disease (Type 3)

E75.5

Other lipid storage disorders

Cerebrotendinous cholesterosis (van Bogaert-Scherer-Epstein)

Wolman's disease

E75.6

Lipid storage disorder, unspecified

(E76–E78) Combinations

E76

Disorders of glycosaminoglycan metabolism

E76.0

Mucopolysaccharidosis, type I

Hurler syndrome

E76.1

Mucopolysaccharidosis, type II

Hunter syndrome

E76.2

Other mucopolysaccharidoses

Sanfilippo syndrome

Morquio syndrome

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

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

E78.0

Pure hypercholesterolaemia

Familial hypercholesterolaemia

Fredrickson's hyperlipoproteinaemia, type IIa

Hyperbetalipoproteinaemia

Hyperlipidaemia, group A

Low-density-lipoprotein-type (LDL) hyperlipoproteinaemia

E78.1

Pure hyperglyceridaemia

Endogenous hyperglyceridaemia

Fredrickson's hyperlipoproteinaemia, type IV

Hyperlipidaemia, group B

Hyperprebetalipoproteinaemia

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

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

Abetalipoproteinaemia

High-density lipoprotein deficiency

Hypoalphalipoproteinaemia

Hypobetalipoproteinaemia (familial)

Lecithin cholesterol acyltransferase deficiency

Tangier disease

(E79–E90) Other metabolic disorders

E79

Disorders of purine and pyrimidine metabolism

E79.0

Hyperuricaemia without signs of inflammatory arthritis and tophaceous disease

E79.1

Lesch-Nyhan syndrome

E79.8

Other disorders of purine and pyrimidine metabolism

Hereditary xanthinuria

E80

Disorders of porphyrin and bilirubin metabolism

E80.0

Hereditary erythropoietic porphyria

E80.010

Erythropoietic protoporphyria (ILDS)

E80.020

Erythropoietic porphyria, congenital (ILDS)

E80.020

Gunther's disease (ILDS (ILDS)

E80.030

Erythropoietic porphyria (ILDS (ILDS )

E80.040

Erythropoietic coproporphyria (ILDS)

E80.1

Porphyria cutanea tarda

E80.110

Sporadic porphyria cutanea tarda (ILDS)

E80.120

Familial porphyria cutanea tarda (ILDS)

E80.2

Other porphyria

E80.210

Acute intermittent porphyria (ILDS)

E80.222

Hereditary coproporphyria (ILDS)

E80.230

Variegate porphyria (ILDS)

E80.232

Chester porphyria (ILDS )

E80.240

Porphyria, hepatic (ILDS)

E80.250

Pseudoporphyria (ILDS)

E80.260

Toxic porphyria (ILDS)

E80.282

Hepatoerythropoietic porphyria (ILDS)

E80.290

Porphyria, NOS (ILDS

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

E80.7

Disorder of bilirubin metabolism, unspecified

E83

Disorders of mineral metabolism

E83.0

Disorders of copper metabolism

Wilson's disease

Menkes disease

E83.1

Disorders of iron metabolism

Aceruloplasminemia

Hemochromatosis

E83.2

 Disorders of zinc metabolism

Acrodermatitis enteropathica

E83.3

Disorders of phosphorus metabolism

Acid phosphatase deficiency

Familial hypophosphataemia

Hypophosphatasia

Vitamin-D-resistant osteomalacia

Vitamin-D-resistant rickets

E83.4

Disorders of magnesium metabolism

Hypermagnesemia

Hypomagnesemia

E83.5

Disorders of calcium metabolism

Familial hypocalciuric hypercalcaemia

E84

Idiopathic hypercalciuria

Cystic fibrosis

E85

Amyloidosis

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

E85.4

Haemodialysis-associated amyloidosis

Organ-limited amyloidosis

Localized amyloidosis

E85.8

Other amyloidosis

E85.9

Amyloidosis, unspecified

E86

Volume depletion

Dehydration

Hypovolaemia

E87

Other disorders of fluid, electrolyte and acid-base balance

E87.0

Hyperosmolality and hypernatraemia

E87.1

Hypo-osmolality and hyponatraemia

E87.2

Acidosis

Respiratory acidosis

Metabolic acidosis

Lactic acidosis

E87.3

Alkalosis

E87.4

Mixed disorder of acid-base balance

E87.5

Hyperkalaemia

E87.6

Hypokalaemia

E87.7

Fluid overload

E87.8

Other disorders of electrolyte and fluid balance, not elsewhere classified

Electrolyte imbalance NOS

Hyperchloraemia

Hypochloraemia

E88

Other metabolic disorders

E88.0

Disorders of plasma-protein metabolism, not elsewhere classified

Alpha-1-antitrypsin deficiency

Bisalbuminaemia

E88.1

Lipodystrophy, not elsewhere classified

E88.2

 Lipomatosis, not elsewhere classified

E88.8

 Other specified metabolic disorders

Launois-Bensaude adenolipomatosis

Trimethylaminuria

E88.9

Metabolic disorder, unspecified

E89

 Postprocedural endocrine and metabolic disorders, not elsewhere classified

E89.0

Postprocedural hypothyroidism

E89.1

Postprocedural hypoinsulinaemia

E89.2

 Postprocedural hypoparathyroidism

E89.3

 Postprocedural hypopituitarism

E89.4

 Postprocedural ovarian failure

E89.5

 Postprocedural testicular hypofunction

E89.6

 Postprocedural adrenocortical(-medullary) hypofunction

E90

Nutritional and metabolic disorders in diseases classified elsewhere

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