 E71 |
|
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism  |
| |
 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 |
| |
| Hyperleucine-isoleucinemia | | Hypervalinemia |
|
| |
| |
| E71.2 |
|
Disorder of branched-chain amino-acid metabolism, unspecified |
|
| |
| E71.3 |
|
Disorders of fatty-acid metabolism |
| |
| Excludes1 |
peroxisomal disorders (E71.5)
Refsum's disease (G60.1)
Schilder's disease (G37.0)
|
| Excludes2 |
carnitine deficiency due to inborn error of metabolism (E71.42)
|
|
| |
| 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 |
| |
| LCAD deficiency | | VLCAD deficiency |
|
| | |
| E71.311 |
|
Medium chain acyl CoA dehydrogenase deficiency |
| |
|
| | |
| E71.312 |
|
Short chain acyl CoA dehydrogenase deficiency |
| |
|
| | |
| E71.313 |
|
Glutaric aciduria type II |
| |
| Glutaric aciduria type II A | | Glutaric aciduria type II B | | Glutaric aciduria type II C |
| Excludes1 |
glutaric aciduria (type 1) NOS (E72.3)
|
|
| | |
| 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 |
| |
| Excludes1 |
Muscle carnitine palmitoyltransferase deficiency (E71.314)
|
|
| |
| E71.40 |
|
Disorder of carnitine metabolism, unspecified |
| | |
| E71.41 |
|
Primary carnitine deficiency |
| | |
| E71.42 |
|
Carnitine deficiency due to inborn errors of metabolism |
| |
| CodeAlso |
associated inborn error or metabolism
|
|
| | |
| E71.43 |
|
Iatrogenic carnitine deficiency |
| |
| Carnitine deficiency due to hemodialysis | | Carnitine deficiency due to Valproic acid therapy |
|
| | |
| E71.44 |
|
Other secondary carnitine deficiency |
| |
| E71.440 |
|
Ruvalcaba-Myhre-Smith syndrome |
| | |
| E71.448 |
|
Other secondary carnitine deficiency |
| | |
| |
| E71.5 |
|
Peroxisomal disorders |
| |
| Excludes1 |
Schilder's disease (G37.0)
|
|
| |
| E71.50 |
|
Peroxisomal disorder, unspecified |
| | |
| E71.51 |
|
Disorders of peroxisome biogenesis |
| |
| Group 1 peroxisomal disorders |
| Excludes1 |
Refsum's disease (G60.1)
|
|
| |
| E71.510 |
|
Zellweger syndrome |
| | |
| E71.511 |
|
Neonatal adrenoleukodystrophy |
| |
| Excludes1 |
X-linked adrenoleukodystrophy (E71.42-)
|
|
| | |
| 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 |
| |
| Addison only phenotype adrenoleukodystrophy | | Addison-Schilder 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 |
| |
| Excludes1 |
chondrodysplasia punctata NOS (Q77.3)
|
|
| | |
| E71.541 |
|
Zellweger-like syndrome |
| | |
| E71.542 |
|
Other group 3 peroxisomal disorders |
| | |
| E71.548 |
|
Other peroxisomal disorders |
| | |