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Taxonomy Codes
Endocrine, nutritional and metabolic diseases
Metabolic disorders (E70-E88)
Disorders of aromatic amino-acid metabolism (E70)
E70
- Disorders of aromatic amino-acid metabolism
E70.0
- Classical phenylketonuria
E70.1
- Other hyperphenylalaninemias
E70.2
- Disorders of tyrosine metabolism
E70.20
- Disorder of tyrosine metabolism, unspecified
E70.21
- Tyrosinemia
E70.29
- Other disorders of tyrosine metabolism
E70.3
- Albinism
E70.30
- Albinism, unspecified
E70.31
- Ocular albinism
E70.310
- X-linked ocular albinism
E70.311
- Autosomal recessive ocular albinism
E70.318
- Other ocular albinism
E70.319
- Ocular albinism, unspecified
E70.32
- Oculocutaneous albinism
E70.320
- Tyrosinase negative oculocutaneous albinism
E70.321
- Tyrosinase positive oculocutaneous albinism
E70.328
- Other oculocutaneous albinism
E70.329
- Oculocutaneous albinism, unspecified
E70.33
- Albinism with hematologic abnormality
E70.330
- Chediak-Higashi syndrome
E70.331
- Hermansky-Pudlak syndrome
E70.338
- Other albinism with hematologic abnormality
E70.339
- Albinism with hematologic abnormality, unspecified
E70.39
- Other specified albinism
E70.4
- Disorders of histidine metabolism
E70.40
- Disorders of histidine metabolism, unspecified
E70.41
- Histidinemia
E70.49
- Other disorders of histidine metabolism
E70.5
- Disorders of tryptophan metabolism
E70.8
- Other disorders of aromatic amino-acid metabolism
E70.81
- Aromatic L-amino acid decarboxylase deficiency
E70.89
- Other disorders of aromatic amino-acid metabolism
E70.9
- Disorder of aromatic amino-acid metabolism, unspecified
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism (E71)
E71
- Disord of branched-chain amino-acid metab & fatty-acid metab
E71.0
- Maple-syrup-urine disease
E71.1
- Other disorders of branched-chain amino-acid metabolism
E71.11
- Branched-chain organic acidurias
E71.110
- Isovaleric acidemia
E71.111
- 3-methylglutaconic aciduria
E71.118
- Other branched-chain organic acidurias
E71.12
- Disorders of propionate metabolism
E71.120
- Methylmalonic acidemia
E71.121
- Propionic acidemia
E71.128
- Other disorders of propionate metabolism
E71.19
- Other disorders of branched-chain amino-acid metabolism
E71.2
- Disorder of branched-chain amino-acid metabolism, unsp
E71.3
- Disorders of fatty-acid metabolism
E71.30
- Disorder of fatty-acid metabolism, unspecified
E71.31
- Disorders of fatty-acid oxidation
E71.310
- Long chain/very long chain acyl CoA dehydrogenase deficiency
E71.311
- Medium chain acyl CoA dehydrogenase deficiency
E71.312
- Short chain acyl CoA dehydrogenase deficiency
E71.313
- Glutaric aciduria type II
E71.314
- Muscle carnitine palmitoyltransferase deficiency
E71.318
- Other disorders of fatty-acid oxidation
E71.32
- Disorders of ketone metabolism
E71.39
- Other disorders of fatty-acid metabolism
E71.4
- Disorders of carnitine metabolism
E71.40
- Disorder of carnitine metabolism, unspecified
E71.41
- Primary carnitine deficiency
E71.42
- Carnitine deficiency due to inborn errors of metabolism
E71.43
- Iatrogenic carnitine deficiency
E71.44
- Other secondary carnitine deficiency
E71.440
- Ruvalcaba-Myhre-Smith syndrome
E71.448
- Other secondary carnitine deficiency
E71.5
- Peroxisomal disorders
E71.50
- Peroxisomal disorder, unspecified
E71.51
- Disorders of peroxisome biogenesis
E71.510
- Zellweger syndrome
E71.511
- Neonatal adrenoleukodystrophy
E71.518
- Other disorders of peroxisome biogenesis
E71.52
- X-linked adrenoleukodystrophy
E71.520
- Childhood cerebral X-linked adrenoleukodystrophy
E71.521
- Adolescent X-linked adrenoleukodystrophy
E71.522
- Adrenomyeloneuropathy
E71.528
- Other X-linked adrenoleukodystrophy
E71.529
- X-linked adrenoleukodystrophy, unspecified type
E71.53
- Other group 2 peroxisomal disorders
E71.54
- Other peroxisomal disorders
E71.540
- Rhizomelic chondrodysplasia punctata
E71.541
- Zellweger-like syndrome
E71.542
- Other group 3 peroxisomal disorders
E71.548
- Other peroxisomal disorders
Other disorders of amino-acid metabolism (E72)
E72
- Other disorders of amino-acid metabolism
E72.0
- Disorders of amino-acid transport
E72.00
- Disorders of amino-acid transport, unspecified
E72.01
- Cystinuria
E72.02
- Hartnup's disease
E72.03
- Lowe's syndrome
E72.04
- Cystinosis
E72.09
- Other disorders of amino-acid transport
E72.1
- Disorders of sulfur-bearing amino-acid metabolism
E72.10
- Disorders of sulfur-bearing amino-acid metabolism, unsp
E72.11
- Homocystinuria
E72.12
- Methylenetetrahydrofolate reductase deficiency
E72.19
- Other disorders of sulfur-bearing amino-acid metabolism
E72.2
- Disorders of urea cycle metabolism
E72.20
- Disorder of urea cycle metabolism, unspecified
E72.21
- Argininemia
E72.22
- Arginosuccinic aciduria
E72.23
- Citrullinemia
E72.29
- Other disorders of urea cycle metabolism
E72.3
- Disorders of lysine and hydroxylysine metabolism
E72.4
- Disorders of ornithine metabolism
E72.5
- Disorders of glycine metabolism
E72.50
- Disorder of glycine metabolism, unspecified
E72.51
- Non-ketotic hyperglycinemia
E72.52
- Trimethylaminuria
E72.53
- Primary hyperoxaluria
E72.59
- Other disorders of glycine metabolism
E72.8
- Other specified disorders of amino-acid metabolism
E72.81
- Disorders of gamma aminobutyric acid metabolism
E72.89
- Other specified disorders of amino-acid metabolism
E72.9
- Disorder of amino-acid metabolism, unspecified
Lactose intolerance (E73)
E73
- Lactose intolerance
E73.0
- Congenital lactase deficiency
E73.1
- Secondary lactase deficiency
E73.8
- Other lactose intolerance
E73.9
- Lactose intolerance, unspecified
Other disorders of carbohydrate metabolism (E74)
E74
- Other disorders of carbohydrate metabolism
E74.0
- Glycogen storage disease
E74.00
- Glycogen storage disease, unspecified
E74.01
- von Gierke disease
E74.02
- Pompe disease
E74.03
- Cori disease
E74.04
- McArdle disease
E74.05
- Lysosome-associated membrane protein 2 [LAMP2] deficiency
E74.09
- Other glycogen storage disease
E74.1
- Disorders of fructose metabolism
E74.10
- Disorder of fructose metabolism, unspecified
E74.11
- Essential fructosuria
E74.12
- Hereditary fructose intolerance
E74.19
- Other disorders of fructose metabolism
E74.2
- Disorders of galactose metabolism
E74.20
- Disorders of galactose metabolism, unspecified
E74.21
- Galactosemia
E74.29
- Other disorders of galactose metabolism
E74.3
- Other disorders of intestinal carbohydrate absorption
E74.31
- Sucrase-isomaltase deficiency
E74.39
- Other disorders of intestinal carbohydrate absorption
E74.4
- Disorders of pyruvate metabolism and gluconeogenesis
E74.8
- Other specified disorders of carbohydrate metabolism
E74.81
- Disorders of glucose transport, not elsewhere classified
E74.810
- Glucose transporter protein type 1 deficiency
E74.818
- Other disorders of glucose transport
E74.819
- Disorders of glucose transport, unspecified
E74.89
- Other specified disorders of carbohydrate metabolism
E74.9
- Disorder of carbohydrate metabolism, unspecified
Disorders of sphingolipid metabolism and other lipid storage disorders (E75)
E75
- Disord of sphingolipid metab and oth lipid storage disorders
E75.0
- GM2 gangliosidosis
E75.00
- GM2 gangliosidosis, unspecified
E75.01
- Sandhoff disease
E75.02
- Tay-Sachs disease
E75.09
- Other GM2 gangliosidosis
E75.1
- Other and unspecified gangliosidosis
E75.10
- Unspecified gangliosidosis
E75.11
- Mucolipidosis IV
E75.19
- Other gangliosidosis
E75.2
- Other sphingolipidosis
E75.21
- Fabry (-Anderson) disease
E75.22
- Gaucher disease
E75.23
- Krabbe disease
E75.24
- Niemann-Pick disease
E75.240
- Niemann-Pick disease type A
E75.241
- Niemann-Pick disease type B
E75.242
- Niemann-Pick disease type C
E75.243
- Niemann-Pick disease type D
E75.244
- Niemann-Pick disease type A/B
E75.248
- Other Niemann-Pick disease
E75.249
- Niemann-Pick disease, unspecified
E75.25
- Metachromatic leukodystrophy
E75.26
- Sulfatase deficiency
E75.27
- Pelizaeus-Merzbacher disease
E75.28
- Canavan disease
E75.29
- Other sphingolipidosis
E75.3
- Sphingolipidosis, unspecified
E75.4
- Neuronal ceroid lipofuscinosis
E75.5
- Other lipid storage disorders
E75.6
- Lipid storage disorder, unspecified
Disorders of glycosaminoglycan metabolism (E76)
E76
- Disorders of glycosaminoglycan metabolism
E76.0
- Mucopolysaccharidosis, type I
E76.01
- Hurler's syndrome
E76.02
- Hurler-Scheie syndrome
E76.03
- Scheie's syndrome
E76.1
- Mucopolysaccharidosis, type II
E76.2
- Other mucopolysaccharidoses
E76.21
- Morquio mucopolysaccharidoses
E76.210
- Morquio A mucopolysaccharidoses
E76.211
- Morquio B mucopolysaccharidoses
E76.219
- Morquio mucopolysaccharidoses, unspecified
E76.22
- Sanfilippo mucopolysaccharidoses
E76.29
- Other mucopolysaccharidoses
E76.3
- Mucopolysaccharidosis, unspecified
E76.8
- Other disorders of glucosaminoglycan metabolism
E76.9
- Glucosaminoglycan metabolism disorder, unspecified
Disorders of glycoprotein metabolism (E77)
E77
- Disorders of glycoprotein metabolism
E77.0
- Defects in post-translational mod of lysosomal enzymes
E77.1
- Defects in glycoprotein degradation
E77.8
- Other disorders of glycoprotein metabolism
E77.9
- Disorder of glycoprotein metabolism, unspecified
Disorders of lipoprotein metabolism and other lipidemias (E78)
E78
- Disorders of lipoprotein metabolism and other lipidemias
E78.0
- Pure hypercholesterolemia
E78.00
- Pure hypercholesterolemia, unspecified
E78.01
- Familial hypercholesterolemia
E78.1
- Pure hyperglyceridemia
E78.2
- Mixed hyperlipidemia
E78.3
- Hyperchylomicronemia
E78.4
- Other hyperlipidemia
E78.41
- Elevated Lipoprotein(a)
E78.49
- Other hyperlipidemia
E78.5
- Hyperlipidemia, unspecified
E78.6
- Lipoprotein deficiency
E78.7
- Disorders of bile acid and cholesterol metabolism
E78.70
- Disorder of bile acid and cholesterol metabolism, unsp
E78.71
- Barth syndrome
E78.72
- Smith-Lemli-Opitz syndrome
E78.79
- Other disorders of bile acid and cholesterol metabolism
E78.8
- Other disorders of lipoprotein metabolism
E78.81
- Lipoid dermatoarthritis
E78.89
- Other lipoprotein metabolism disorders
E78.9
- Disorder of lipoprotein metabolism, unspecified
Disorders of purine and pyrimidine metabolism (E79)
E79
- Disorders of purine and pyrimidine metabolism
E79.0
- Hyperuricemia w/o signs of inflam arthrit and tophaceous dis
E79.1
- Lesch-Nyhan syndrome
E79.2
- Myoadenylate deaminase deficiency
E79.8
- Other disorders of purine and pyrimidine metabolism
E79.81
- Aicardi-Goutieres syndrome
E79.82
- Hereditary xanthinuria
E79.89
- Oth disrd of purine and pyrimidine metabolism
E79.9
- Disorder of purine and pyrimidine metabolism, unspecified
Disorders of porphyrin and bilirubin metabolism (E80)
E80
- Disorders of porphyrin and bilirubin metabolism
E80.0
- Hereditary erythropoietic porphyria
E80.1
- Porphyria cutanea tarda
E80.2
- Other and unspecified porphyria
E80.20
- Unspecified porphyria
E80.21
- Acute intermittent (hepatic) porphyria
E80.29
- Other porphyria
E80.3
- Defects of catalase and peroxidase
E80.4
- Gilbert syndrome
E80.5
- Crigler-Najjar syndrome
E80.6
- Other disorders of bilirubin metabolism
E80.7
- Disorder of bilirubin metabolism, unspecified
Disorders of mineral metabolism (E83)
E83
- Disorders of mineral metabolism
E83.0
- Disorders of copper metabolism
E83.00
- Disorder of copper metabolism, unspecified
E83.01
- Wilson's disease
E83.09
- Other disorders of copper metabolism
E83.1
- Disorders of iron metabolism
E83.10
- Disorder of iron metabolism, unspecified
E83.11
- Hemochromatosis
E83.110
- Hereditary hemochromatosis
E83.111
- Hemochromatosis due to repeated red blood cell transfusions
E83.118
- Other hemochromatosis
E83.119
- Hemochromatosis, unspecified
E83.19
- Other disorders of iron metabolism
E83.2
- Disorders of zinc metabolism
E83.3
- Disorders of phosphorus metabolism and phosphatases
E83.30
- Disorder of phosphorus metabolism, unspecified
E83.31
- Familial hypophosphatemia
E83.32
- Hereditary vitamin D-dependent rickets (type 1) (type 2)
E83.39
- Other disorders of phosphorus metabolism
E83.4
- Disorders of magnesium metabolism
E83.40
- Disorders of magnesium metabolism, unspecified
E83.41
- Hypermagnesemia
E83.42
- Hypomagnesemia
E83.49
- Other disorders of magnesium metabolism
E83.5
- Disorders of calcium metabolism
E83.50
- Unspecified disorder of calcium metabolism
E83.51
- Hypocalcemia
E83.52
- Hypercalcemia
E83.59
- Other disorders of calcium metabolism
E83.8
- Other disorders of mineral metabolism
E83.81
- Hungry bone syndrome
E83.89
- Other disorders of mineral metabolism
E83.9
- Disorder of mineral metabolism, unspecified
Cystic fibrosis (E84)
E84
- Cystic fibrosis
E84.0
- Cystic fibrosis with pulmonary manifestations
E84.1
- Cystic fibrosis with intestinal manifestations
E84.11
- Meconium ileus in cystic fibrosis
E84.19
- Cystic fibrosis with other intestinal manifestations
E84.8
- Cystic fibrosis with other manifestations
E84.9
- Cystic fibrosis, unspecified
Amyloidosis (E85)
E85
- Amyloidosis
E85.0
- Non-neuropathic heredofamilial amyloidosis
E85.1
- Neuropathic heredofamilial amyloidosis
E85.2
- Heredofamilial amyloidosis, unspecified
E85.3
- Secondary systemic amyloidosis
E85.4
- Organ-limited amyloidosis
E85.8
- Other amyloidosis
E85.81
- Light chain (AL) amyloidosis
E85.82
- Wild-type transthyretin-related (ATTR) amyloidosis
E85.89
- Other amyloidosis
E85.9
- Amyloidosis, unspecified
Volume depletion (E86)
E86
- Volume depletion
E86.0
- Dehydration
E86.1
- Hypovolemia
E86.9
- Volume depletion, unspecified
Other disorders of fluid, electrolyte and acid-base balance (E87)
E87
- Other disorders of fluid, electrolyte and acid-base balance
E87.0
- Hyperosmolality and hypernatremia
E87.1
- Hypo-osmolality and hyponatremia
E87.2
- Acidosis
E87.20
- Acidosis, unspecified
E87.21
- Acute metabolic acidosis
E87.22
- Chronic metabolic acidosis
E87.29
- Other acidosis
E87.3
- Alkalosis
E87.4
- Mixed disorder of acid-base balance
E87.5
- Hyperkalemia
E87.6
- Hypokalemia
E87.7
- Fluid overload
E87.70
- Fluid overload, unspecified
E87.71
- Transfusion associated circulatory overload
E87.79
- Other fluid overload
E87.8
- Oth disorders of electrolyte and fluid balance, NEC
Other and unspecified metabolic disorders (E88)
E88
- Other and unspecified metabolic disorders
E88.0
- Disorders of plasma-protein metabolism, NEC
E88.01
- Alpha-1-antitrypsin deficiency
E88.02
- Plasminogen deficiency
E88.09
- Oth disorders of plasma-protein metabolism, NEC
E88.1
- Lipodystrophy, not elsewhere classified
E88.2
- Lipomatosis, not elsewhere classified
E88.3
- Tumor lysis syndrome
E88.4
- Mitochondrial metabolism disorders
E88.40
- Mitochondrial metabolism disorder, unspecified
E88.41
- MELAS syndrome
E88.42
- MERRF syndrome
E88.43
- Disorders of mitochondrial tRNA synthetases
E88.49
- Other mitochondrial metabolism disorders
E88.8
- Other specified metabolic disorders
E88.81
- Metabolic syndrome and other insulin resistance
E88.810
- Metabolic syndrome
E88.811
- Insulin resistance syndrome, Type A
E88.818
- Other insulin resistance
E88.819
- Insulin resistance, unspecified
E88.89
- Other specified metabolic disorders
E88.9
- Metabolic disorder, unspecified
E88.A
- Wasting disease (syndrome) due to underlying condition