Metabolic disorders
366 codes in this section
Codes
Disorders of aromatic amino-acid metabolism
8 subcategoryies
Classical phenylketonuria
Other hyperphenylalaninemias
Disorders of tyrosine metabolism
3 subcategoryies
Disorder of tyrosine metabolism, unspecified
Tyrosinemia
Other disorders of tyrosine metabolism
Albinism
5 subcategoryies
Albinism, unspecified
Ocular albinism
4 subcategoryies
X-linked ocular albinism
Autosomal recessive ocular albinism
Other ocular albinism
Ocular albinism, unspecified
Oculocutaneous albinism
4 subcategoryies
Tyrosinase negative oculocutaneous albinism
Tyrosinase positive oculocutaneous albinism
Other oculocutaneous albinism
Oculocutaneous albinism, unspecified
Albinism with hematologic abnormality
4 subcategoryies
Chediak-Higashi syndrome
Hermansky-Pudlak syndrome
Other albinism with hematologic abnormality
Albinism with hematologic abnormality, unspecified
Other specified albinism
Disorders of histidine metabolism
3 subcategoryies
Disorders of histidine metabolism, unspecified
Histidinemia
Other disorders of histidine metabolism
Disorders of tryptophan metabolism
Other disorders of aromatic amino-acid metabolism
2 subcategoryies
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
6 subcategoryies
Maple-syrup-urine disease
Other disorders of branched-chain amino-acid metabolism
3 subcategoryies
Branched-chain organic acidurias
3 subcategoryies
Isovaleric acidemia
3-methylglutaconic aciduria
Other branched-chain organic acidurias
Disorders of propionate metabolism
3 subcategoryies
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
4 subcategoryies
Disorder of fatty-acid metabolism, unspecified
Disorders of fatty-acid oxidation
6 subcategoryies
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
5 subcategoryies
Disorder of carnitine metabolism, unspecified
Primary carnitine deficiency
Carnitine deficiency due to inborn errors of metabolism
Iatrogenic carnitine deficiency
Other secondary carnitine deficiency
2 subcategoryies
Ruvalcaba-Myhre-Smith syndrome
Other secondary carnitine deficiency
Peroxisomal disorders
5 subcategoryies
Peroxisomal disorder, unspecified
Disorders of peroxisome biogenesis
3 subcategoryies
Zellweger syndrome
Neonatal adrenoleukodystrophy
Other disorders of peroxisome biogenesis
X-linked adrenoleukodystrophy
5 subcategoryies
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
4 subcategoryies
Rhizomelic chondrodysplasia punctata
Zellweger-like syndrome
Other group 3 peroxisomal disorders
Other peroxisomal disorders
Other disorders of amino-acid metabolism
8 subcategoryies
Disorders of amino-acid transport
6 subcategoryies
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
4 subcategoryies
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
5 subcategoryies
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
6 subcategoryies
Disorder of glycine metabolism, unspecified
Non-ketotic hyperglycinemia
Trimethylaminuria
Primary hyperoxaluria
3 subcategoryies
Primary hyperoxaluria, type 1
Other specified primary hyperoxaluria
Primary hyperoxaluria, unspecified
Secondary hyperoxaluria
4 subcategoryies
Dietary hyperoxaluria
Enteric hyperoxaluria
Other secondary hyperoxaluria
Secondary hyperoxaluria, unspecified
Other disorders of glycine metabolism
Other specified disorders of amino-acid metabolism
2 subcategoryies
Disorders of gamma aminobutyric acid metabolism
Other specified disorders of amino-acid metabolism
Disorder of amino-acid metabolism, unspecified
Lactose intolerance
4 subcategoryies
Congenital lactase deficiency
Secondary lactase deficiency
Other lactose intolerance
Lactose intolerance, unspecified
Other disorders of carbohydrate metabolism
7 subcategoryies
Glycogen storage disease
7 subcategoryies
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
4 subcategoryies
Disorder of fructose metabolism, unspecified
Essential fructosuria
Hereditary fructose intolerance
Other disorders of fructose metabolism
Disorders of galactose metabolism
3 subcategoryies
Disorders of galactose metabolism, unspecified
Galactosemia
Other disorders of galactose metabolism
Other disorders of intestinal carbohydrate absorption
2 subcategoryies
Sucrase-isomaltase deficiency
Other disorders of intestinal carbohydrate absorption
Disorders of pyruvate metabolism and gluconeogenesis
Other specified disorders of carbohydrate metabolism
3 subcategoryies
Disorders of glucose transport, not elsewhere classified
3 subcategoryies
Glucose transporter protein type 1 deficiency
Other disorders of glucose transport
Disorders of glucose transport, unspecified
Disorders of citrate metabolism
2 subcategoryies
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
7 subcategoryies
GM2 gangliosidosis
4 subcategoryies
GM2 gangliosidosis, unspecified
Sandhoff disease
Tay-Sachs disease
Other GM2 gangliosidosis
Other and unspecified gangliosidosis
3 subcategoryies
Unspecified gangliosidosis
Mucolipidosis IV
Other gangliosidosis
Other sphingolipidosis
9 subcategoryies
Fabry (-Anderson) disease
Gaucher disease
Krabbe disease
Niemann-Pick disease
7 subcategoryies
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
6 subcategoryies
Mucopolysaccharidosis, type I
3 subcategoryies
Hurler's syndrome
Hurler-Scheie syndrome
Scheie's syndrome
Mucopolysaccharidosis, type II
Other mucopolysaccharidoses
3 subcategoryies
Morquio mucopolysaccharidoses
3 subcategoryies
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
4 subcategoryies
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
10 subcategoryies
Pure hypercholesterolemia
2 subcategoryies
Pure hypercholesterolemia, unspecified
Familial hypercholesterolemia
3 subcategoryies
Homozygous familial hypercholesterolemia [HoFH]
Heterozygous familial hypercholesterolemia [HeFH]
Familial hypercholesterolemia, unspecified
Pure hyperglyceridemia
Mixed hyperlipidemia
Hyperchylomicronemia
Other hyperlipidemia
2 subcategoryies
Elevated Lipoprotein(a)
Other hyperlipidemia
Hyperlipidemia, unspecified
Lipoprotein deficiency
Disorders of bile acid and cholesterol metabolism
4 subcategoryies
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
2 subcategoryies
Lipoid dermatoarthritis
Other lipoprotein metabolism disorders
Disorder of lipoprotein metabolism, unspecified
Disorders of purine and pyrimidine metabolism
5 subcategoryies
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
Lesch-Nyhan syndrome
Myoadenylate deaminase deficiency
Other disorders of purine and pyrimidine metabolism
3 subcategoryies
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
8 subcategoryies
Hereditary erythropoietic porphyria
Porphyria cutanea tarda
Other and unspecified porphyria
3 subcategoryies
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
8 subcategoryies
Disorders of copper metabolism
3 subcategoryies
Disorder of copper metabolism, unspecified
Wilson's disease
Other disorders of copper metabolism
Disorders of iron metabolism
3 subcategoryies
Disorder of iron metabolism, unspecified
Hemochromatosis
4 subcategoryies
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
4 subcategoryies
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
4 subcategoryies
Disorders of magnesium metabolism, unspecified
Hypermagnesemia
Hypomagnesemia
Other disorders of magnesium metabolism
Disorders of calcium metabolism
4 subcategoryies
Unspecified disorder of calcium metabolism
Hypocalcemia
Hypercalcemia
Other disorders of calcium metabolism
Other disorders of mineral metabolism
3 subcategoryies
Hungry bone syndrome
Disorders of pyrophosphate metabolism
6 subcategoryies
Generalized arterial calcification of infancy with unspecified genetic causality
ENPP1 deficiency causing generalized arterial calcification of infancy
ENPP1 deficiency causing autosomal recessive hypophosphatemic rickets type 2
ABCC6 deficiency causing generalized arterial calcification of infancy
ABCC6 deficiency causing pseudoxanthoma elasticum
CD73 deficiency causing arterial calcification
Other disorders of mineral metabolism
Disorder of mineral metabolism, unspecified
Cystic fibrosis
4 subcategoryies
Cystic fibrosis with pulmonary manifestations
Cystic fibrosis with intestinal manifestations
2 subcategoryies
Meconium ileus in cystic fibrosis
Cystic fibrosis with other intestinal manifestations
Cystic fibrosis with other manifestations
Cystic fibrosis, unspecified
Amyloidosis
7 subcategoryies
Non-neuropathic heredofamilial amyloidosis
Neuropathic heredofamilial amyloidosis
Heredofamilial amyloidosis, unspecified
Secondary systemic amyloidosis
Organ-limited amyloidosis
Other amyloidosis
3 subcategoryies
Light chain (AL) amyloidosis
Wild-type transthyretin-related (ATTR) amyloidosis
Other amyloidosis
Amyloidosis, unspecified
Volume depletion
3 subcategoryies
Dehydration
Hypovolemia
Volume depletion, unspecified
Other disorders of fluid, electrolyte and acid-base balance
9 subcategoryies
Hyperosmolality and hypernatremia
Hypo-osmolality and hyponatremia
Acidosis
4 subcategoryies
Acidosis, unspecified
Acute metabolic acidosis
Chronic metabolic acidosis
Other acidosis
Alkalosis
Mixed disorder of acid-base balance
Hyperkalemia
Hypokalemia
Fluid overload
3 subcategoryies
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
8 subcategoryies
Disorders of plasma-protein metabolism, not elsewhere classified
3 subcategoryies
Alpha-1-antitrypsin deficiency
Plasminogen deficiency
Other disorders of plasma-protein metabolism, not elsewhere classified
Lipodystrophy, not elsewhere classified
6 subcategoryies
Lipodystrophy, unspecified
Partial lipodystrophy
Generalized lipodystrophy
Localized lipodystrophy
HIV-associated lipodystrophy
Other lipodystrophy, not elsewhere classified
Lipomatosis, not elsewhere classified
Tumor lysis syndrome
Mitochondrial metabolism disorders
5 subcategoryies
Mitochondrial metabolism disorder, unspecified
MELAS syndrome
MERRF syndrome
Disorders of mitochondrial tRNA synthetases
Other mitochondrial metabolism disorders
Other specified metabolic disorders
3 subcategoryies
Metabolic syndrome and other insulin resistance
4 subcategoryies
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
