Diseases

Explore disease pages that summarize symptoms, diagnostic context, and related care topics.

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All diseases (73,990)

E7251

Non-ketotic hyperglycinemia

E7252

Trimethylaminuria

E72530

Primary hyperoxaluria, type 1

E72538

Other specified primary hyperoxaluria

E72539

Primary hyperoxaluria, unspecified

E72540

Dietary hyperoxaluria

E72541

Enteric hyperoxaluria

E72548

Other secondary hyperoxaluria

E72549

Secondary hyperoxaluria, unspecified

E7259

Other disorders of glycine metabolism

E7281

Disorders of gamma aminobutyric acid metabolism

E7289

Other specified disorders of amino-acid metabolism

E729

Disorder of amino-acid metabolism, unspecified

E730

Congenital lactase deficiency

E731

Secondary lactase deficiency

E738

Other lactose intolerance

E739

Lactose intolerance, unspecified

E7400

Glycogen storage disease, unspecified

E7401

von Gierke disease

E7402

Pompe disease

E7403

Cori disease

E7404

McArdle disease

E7405

Lysosome-associated membrane protein 2 [LAMP2] deficiency

E7409

Other glycogen storage disease

E7410

Disorder of fructose metabolism, unspecified

E7411

Essential fructosuria

E7412

Hereditary fructose intolerance

E7419

Other disorders of fructose metabolism

E7420

Disorders of galactose metabolism, unspecified

E7421

Galactosemia

E7429

Other disorders of galactose metabolism

E7431

Sucrase-isomaltase deficiency

E7439

Other disorders of intestinal carbohydrate absorption

E744

Disorders of pyruvate metabolism and gluconeogenesis

E74810

Glucose transporter protein type 1 deficiency

E74818

Other disorders of glucose transport

E74819

Disorders of glucose transport, unspecified

E74820

SLC13A5 Citrate Transporter Disorder

E74829

Other disorders of citrate metabolism

E7489

Other specified disorders of carbohydrate metabolism

E749

Disorder of carbohydrate metabolism, unspecified

E76219

Morquio mucopolysaccharidoses, unspecified

E7622

Sanfilippo mucopolysaccharidoses

E7629

Other mucopolysaccharidoses

E763

Mucopolysaccharidosis, unspecified

E768

Other disorders of glucosaminoglycan metabolism

E769

Glucosaminoglycan metabolism disorder, unspecified

E770

Defects in post-translational modification of lysosomal enzymes

E771

Defects in glycoprotein degradation

E778

Other disorders of glycoprotein metabolism

E779

Disorder of glycoprotein metabolism, unspecified

E7800

Pure hypercholesterolemia, unspecified

E78010

Homozygous familial hypercholesterolemia [HoFH]

E78011

Heterozygous familial hypercholesterolemia [HeFH]

E78019

Familial hypercholesterolemia, unspecified

E781

Pure hyperglyceridemia

E782

Mixed hyperlipidemia

E783

Hyperchylomicronemia

E7841

Elevated Lipoprotein(a)

E7849

Other hyperlipidemia

E785

Hyperlipidemia, unspecified

E786

Lipoprotein deficiency

E7870

Disorder of bile acid and cholesterol metabolism, unspecified

E7871

Barth syndrome

E7872

Smith-Lemli-Opitz syndrome

E7879

Other disorders of bile acid and cholesterol metabolism

E7881

Lipoid dermatoarthritis

E7889

Other lipoprotein metabolism disorders

E789

Disorder of lipoprotein metabolism, unspecified

E790

Hyperuricemia without signs of inflammatory arthritis and tophaceous disease

E791

Lesch-Nyhan syndrome

E792

Myoadenylate deaminase deficiency

E7981

Aicardi-Goutieres syndrome

E7982

Hereditary xanthinuria

E7989

Other specified disorders of purine and pyrimidine metabolism

E799

Disorder of purine and pyrimidine metabolism, unspecified

E800

Hereditary erythropoietic porphyria

E801

Porphyria cutanea tarda

E8020

Unspecified porphyria

E8021

Acute intermittent (hepatic) porphyria

E8029

Other porphyria

E803

Defects of catalase and peroxidase

E804

Gilbert syndrome

E805

Crigler-Najjar syndrome

E807

Disorder of bilirubin metabolism, unspecified

E8300

Disorder of copper metabolism, unspecified

E8301

Wilson's disease

E8309

Other disorders of copper metabolism

E8310

Disorder of iron metabolism, unspecified

E83110

Hereditary hemochromatosis

E83111

Hemochromatosis due to repeated red blood cell transfusions

E83118

Other hemochromatosis

E83119

Hemochromatosis, unspecified

E8319

Other disorders of iron metabolism

E832

Disorders of zinc metabolism

E8330

Disorder of phosphorus metabolism, unspecified

E8331

Familial hypophosphatemia

E8332

Hereditary vitamin D-dependent rickets (type 1) (type 2)

E8339

Other disorders of phosphorus metabolism

L811

Chloasma