Metabolic disorders (E70-E88)

Disorders of aromatic amino-acid metabolism

Classical phenylketonuria

Other hyperphenylalaninemias

Disorders of tyrosine metabolism

Disorder of tyrosine metabolism, unspecified

Tyrosinemia

Other disorders of tyrosine metabolism

Albinism

Albinism, unspecified

Ocular albinism

X-linked ocular albinism

Autosomal recessive ocular albinism

Other ocular albinism

Ocular albinism, unspecified

Oculocutaneous albinism

Tyrosinase negative oculocutaneous albinism

Tyrosinase positive oculocutaneous albinism

Other oculocutaneous albinism

Oculocutaneous albinism, unspecified

Albinism with hematologic abnormality

Chediak-Higashi syndrome

Hermansky-Pudlak syndrome

Other albinism with hematologic abnormality

Albinism with hematologic abnormality, unspecified

Other specified albinism

Disorders of histidine metabolism

Disorders of histidine metabolism, unspecified

Histidinemia

Other disorders of histidine metabolism

Disorders of tryptophan metabolism

Other disorders of aromatic amino-acid metabolism

Aromatic L-amino acid decarboxylase deficiency

Other disorders of aromatic amino-acid metabolism

Disorder of aromatic amino-acid metabolism, unspecified

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

Maple-syrup-urine disease

Other disorders of branched-chain amino-acid metabolism

Branched-chain organic acidurias

Isovaleric acidemia

3-methylglutaconic aciduria

Other branched-chain organic acidurias

Disorders of propionate metabolism

Methylmalonic acidemia

Propionic acidemia

Other disorders of propionate metabolism

Other disorders of branched-chain amino-acid metabolism

Disorder of branched-chain amino-acid metabolism, unspecified

Disorders of fatty-acid metabolism

Disorder of fatty-acid metabolism, unspecified

Disorders of fatty-acid oxidation

Long chain/very long chain acyl CoA dehydrogenase deficiency

Medium chain acyl CoA dehydrogenase deficiency

Short chain acyl CoA dehydrogenase deficiency

Glutaric aciduria type II

Muscle carnitine palmitoyltransferase deficiency

Other disorders of fatty-acid oxidation

Disorders of ketone metabolism

Other disorders of fatty-acid metabolism

Disorders of carnitine metabolism

Disorder of carnitine metabolism, unspecified

Primary carnitine deficiency

Carnitine deficiency due to inborn errors of metabolism

Iatrogenic carnitine deficiency

Other secondary carnitine deficiency

Ruvalcaba-Myhre-Smith syndrome

Other secondary carnitine deficiency

Peroxisomal disorders

Peroxisomal disorder, unspecified

Disorders of peroxisome biogenesis

Zellweger syndrome

Neonatal adrenoleukodystrophy

Other disorders of peroxisome biogenesis

X-linked adrenoleukodystrophy

Childhood cerebral X-linked adrenoleukodystrophy

Adolescent X-linked adrenoleukodystrophy

Adrenomyeloneuropathy

Other X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy, unspecified type

Other group 2 peroxisomal disorders

Other peroxisomal disorders

Rhizomelic chondrodysplasia punctata

Zellweger-like syndrome

Other group 3 peroxisomal disorders

Other peroxisomal disorders

Other disorders of amino-acid metabolism

Disorders of amino-acid transport

Disorders of amino-acid transport, unspecified

Cystinuria

Hartnup's disease

Lowe's syndrome

Cystinosis

Other disorders of amino-acid transport

Disorders of sulfur-bearing amino-acid metabolism

Disorders of sulfur-bearing amino-acid metabolism, unspecified

Homocystinuria

Methylenetetrahydrofolate reductase deficiency

Other disorders of sulfur-bearing amino-acid metabolism

Disorders of urea cycle metabolism

Disorder of urea cycle metabolism, unspecified

Argininemia

Arginosuccinic aciduria

Citrullinemia

Other disorders of urea cycle metabolism

Disorders of lysine and hydroxylysine metabolism

Disorders of ornithine metabolism

Disorders of glycine metabolism

Disorder of glycine metabolism, unspecified

Non-ketotic hyperglycinemia

Trimethylaminuria

Primary hyperoxaluria

Other disorders of glycine metabolism

Other specified disorders of amino-acid metabolism

Disorders of gamma aminobutyric acid metabolism

Other specified disorders of amino-acid metabolism

Disorder of amino-acid metabolism, unspecified

Lactose intolerance

Congenital lactase deficiency

Secondary lactase deficiency

Other lactose intolerance

Lactose intolerance, unspecified

Other disorders of carbohydrate metabolism

Glycogen storage disease

Glycogen storage disease, unspecified

von Gierke disease

Pompe disease

Cori disease

McArdle disease

Lysosome-associated membrane protein 2 [LAMP2] deficiency

Other glycogen storage disease

Disorders of fructose metabolism

Disorder of fructose metabolism, unspecified

Essential fructosuria

Hereditary fructose intolerance

Other disorders of fructose metabolism

Disorders of galactose metabolism

Disorders of galactose metabolism, unspecified

Galactosemia

Other disorders of galactose metabolism

Other disorders of intestinal carbohydrate absorption

Sucrase-isomaltase deficiency

Other disorders of intestinal carbohydrate absorption

Disorders of pyruvate metabolism and gluconeogenesis

Other specified disorders of carbohydrate metabolism

Disorders of glucose transport, not elsewhere classified

Glucose transporter protein type 1 deficiency

Other disorders of glucose transport

Disorders of glucose transport, unspecified

Disorders of citrate metabolism

SLC13A5 Citrate Transporter Disorder

Other disorders of citrate metabolism

Other specified disorders of carbohydrate metabolism

Disorder of carbohydrate metabolism, unspecified

Disorders of sphingolipid metabolism and other lipid storage disorders

GM2 gangliosidosis

GM2 gangliosidosis, unspecified

Sandhoff disease

Tay-Sachs disease

Other GM2 gangliosidosis

Other and unspecified gangliosidosis

Unspecified gangliosidosis

Mucolipidosis IV

Other gangliosidosis

Other sphingolipidosis

Fabry (-Anderson) disease

Gaucher disease

Krabbe disease

Niemann-Pick disease

Niemann-Pick disease type A

Niemann-Pick disease type B

Niemann-Pick disease type C

Niemann-Pick disease type D

Niemann-Pick disease type A/B

Other Niemann-Pick disease

Niemann-Pick disease, unspecified

Metachromatic leukodystrophy

Sulfatase deficiency

Pelizaeus-Merzbacher disease

Canavan disease

Other sphingolipidosis

Sphingolipidosis, unspecified

Neuronal ceroid lipofuscinosis

Other lipid storage disorders

Lipid storage disorder, unspecified

Disorders of glycosaminoglycan metabolism

Mucopolysaccharidosis, type I

Hurler's syndrome

Hurler-Scheie syndrome

Scheie's syndrome

Mucopolysaccharidosis, type II

Other mucopolysaccharidoses

Morquio mucopolysaccharidoses

Morquio A mucopolysaccharidoses

Morquio B mucopolysaccharidoses

Morquio mucopolysaccharidoses, unspecified

Sanfilippo mucopolysaccharidoses

Other mucopolysaccharidoses

Mucopolysaccharidosis, unspecified

Other disorders of glucosaminoglycan metabolism

Glucosaminoglycan metabolism disorder, unspecified

Disorders of glycoprotein metabolism

Defects in post-translational modification of lysosomal enzymes

Defects in glycoprotein degradation

Other disorders of glycoprotein metabolism

Disorder of glycoprotein metabolism, unspecified

Disorders of lipoprotein metabolism and other lipidemias

Pure hypercholesterolemia

Pure hypercholesterolemia, unspecified

Familial hypercholesterolemia

Pure hyperglyceridemia

Mixed hyperlipidemia

Hyperchylomicronemia

Other hyperlipidemia

Elevated Lipoprotein(a)

Other hyperlipidemia

Hyperlipidemia, unspecified

Lipoprotein deficiency

Disorders of bile acid and cholesterol metabolism

Disorder of bile acid and cholesterol metabolism, unspecified

Barth syndrome

Smith-Lemli-Opitz syndrome

Other disorders of bile acid and cholesterol metabolism

Other disorders of lipoprotein metabolism

Lipoid dermatoarthritis

Other lipoprotein metabolism disorders

Disorder of lipoprotein metabolism, unspecified

Disorders of purine and pyrimidine metabolism

Hyperuricemia without signs of inflammatory arthritis and tophaceous disease

Lesch-Nyhan syndrome

Myoadenylate deaminase deficiency

Other disorders of purine and pyrimidine metabolism

Aicardi-Goutières syndrome

Hereditary xanthinuria

Other specified disorders of purine and pyrimidine metabolism

Disorder of purine and pyrimidine metabolism, unspecified

Disorders of porphyrin and bilirubin metabolism

Hereditary erythropoietic porphyria

Porphyria cutanea tarda

Other and unspecified porphyria

Unspecified porphyria

Acute intermittent (hepatic) porphyria

Other porphyria

Defects of catalase and peroxidase

Gilbert syndrome

Crigler-Najjar syndrome

Other disorders of bilirubin metabolism

Disorder of bilirubin metabolism, unspecified

Disorders of mineral metabolism

Disorders of copper metabolism

Disorder of copper metabolism, unspecified

Wilson's disease

Other disorders of copper metabolism

Disorders of iron metabolism

Disorder of iron metabolism, unspecified

Hemochromatosis

Hereditary hemochromatosis

Hemochromatosis due to repeated red blood cell transfusions

Other hemochromatosis

Hemochromatosis, unspecified

Other disorders of iron metabolism

Disorders of zinc metabolism

Disorders of phosphorus metabolism and phosphatases

Disorder of phosphorus metabolism, unspecified

Familial hypophosphatemia

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

Other disorders of phosphorus metabolism

Disorders of magnesium metabolism

Disorders of magnesium metabolism, unspecified

Hypermagnesemia

Hypomagnesemia

Other disorders of magnesium metabolism

Disorders of calcium metabolism

Unspecified disorder of calcium metabolism

Hypocalcemia

Hypercalcemia

Other disorders of calcium metabolism

Other disorders of mineral metabolism

Hungry bone syndrome

Other disorders of mineral metabolism

Disorder of mineral metabolism, unspecified

Cystic fibrosis

Cystic fibrosis with pulmonary manifestations

Cystic fibrosis with intestinal manifestations

Meconium ileus in cystic fibrosis

Cystic fibrosis with other intestinal manifestations

Cystic fibrosis with other manifestations

Cystic fibrosis, unspecified

Amyloidosis

Non-neuropathic heredofamilial amyloidosis

Neuropathic heredofamilial amyloidosis

Heredofamilial amyloidosis, unspecified

Secondary systemic amyloidosis

Organ-limited amyloidosis

Other amyloidosis

Light chain (AL) amyloidosis

Wild-type transthyretin-related (ATTR) amyloidosis

Other amyloidosis

Amyloidosis, unspecified

Volume depletion

Dehydration

Hypovolemia

Volume depletion, unspecified

Other disorders of fluid, electrolyte and acid-base balance

Hyperosmolality and hypernatremia

Hypo-osmolality and hyponatremia

Acidosis

Acidosis, unspecified

Acute metabolic acidosis

Chronic metabolic acidosis

Other acidosis

Alkalosis

Mixed disorder of acid-base balance

Hyperkalemia

Hypokalemia

Fluid overload

Fluid overload, unspecified

Transfusion associated circulatory overload

Other fluid overload

Other disorders of electrolyte and fluid balance, not elsewhere classified

Other and unspecified metabolic disorders

Disorders of plasma-protein metabolism, not elsewhere classified

Alpha-1-antitrypsin deficiency

Plasminogen deficiency

Other disorders of plasma-protein metabolism, not elsewhere classified

Lipodystrophy, not elsewhere classified

Lipomatosis, not elsewhere classified

Tumor lysis syndrome

Mitochondrial metabolism disorders

Mitochondrial metabolism disorder, unspecified

MELAS syndrome

MERRF syndrome

Disorders of mitochondrial tRNA synthetases

Other mitochondrial metabolism disorders

Other specified metabolic disorders

Metabolic syndrome and other insulin resistance

Metabolic syndrome

Insulin resistance syndrome, Type A

Other insulin resistance

Insulin resistance, unspecified

Obesity due to disruption of MC4R pathway

Other specified metabolic disorders

Metabolic disorder, unspecified

Wasting disease (syndrome) due to underlying condition