Diseases
Explore disease pages that summarize symptoms, diagnostic context, and related care topics.
All diseases (73,990)
E71120
Methylmalonic acidemia
E71121
Propionic acidemia
E71128
Other disorders of propionate metabolism
E7119
Other disorders of branched-chain amino-acid metabolism
E712
Disorder of branched-chain amino-acid metabolism, unspecified
E7130
Disorder of fatty-acid metabolism, unspecified
E71310
Long chain/very long chain acyl CoA dehydrogenase deficiency
E71311
Medium chain acyl CoA dehydrogenase deficiency
E71312
Short chain acyl CoA dehydrogenase deficiency
E71313
Glutaric aciduria type II
E71314
Muscle carnitine palmitoyltransferase deficiency
E71318
Other disorders of fatty-acid oxidation
E7132
Disorders of ketone metabolism
E7139
Other disorders of fatty-acid metabolism
E7140
Disorder of carnitine metabolism, unspecified
E7141
Primary carnitine deficiency
E7142
Carnitine deficiency due to inborn errors of metabolism
E7143
Iatrogenic carnitine deficiency
E71440
Ruvalcaba-Myhre-Smith syndrome
E71448
Other secondary carnitine deficiency
E7150
Peroxisomal disorder, unspecified
E71510
Zellweger syndrome
E71511
Neonatal adrenoleukodystrophy
E71518
Other disorders of peroxisome biogenesis
E71520
Childhood cerebral X-linked adrenoleukodystrophy
E71521
Adolescent X-linked adrenoleukodystrophy
E71522
Adrenomyeloneuropathy
E71528
Other X-linked adrenoleukodystrophy
E71529
X-linked adrenoleukodystrophy, unspecified type
E7153
Other group 2 peroxisomal disorders
E71540
Rhizomelic chondrodysplasia punctata
E71541
Zellweger-like syndrome
E71542
Other group 3 peroxisomal disorders
E71548
Other peroxisomal disorders
E7200
Disorders of amino-acid transport, unspecified
E7201
Cystinuria
E7202
Hartnup's disease
E7203
Lowe's syndrome
E7204
Cystinosis
E7209
Other disorders of amino-acid transport
E7210
Disorders of sulfur-bearing amino-acid metabolism, unspecified
E7211
Homocystinuria
E7212
Methylenetetrahydrofolate reductase deficiency
E7219
Other disorders of sulfur-bearing amino-acid metabolism
E7220
Disorder of urea cycle metabolism, unspecified
E7221
Argininemia
E723
Disorders of lysine and hydroxylysine metabolism
E724
Disorders of ornithine metabolism
E7250
Disorder of glycine metabolism, unspecified
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
C113
Malignant neoplasm of anterior wall of nasopharynx