E72 |
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Other disorders of amino-acid metabolism  |
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Excludes1 |
disorders of: aromatic amino-acid metabolism (E70.-) branched-chain amino-acid metabolism (E71.0-E71.2) fatty-acid metabolism (E71.3) purine and pyrimidine metabolism (E79.-) gout (M1A.-, M10.-)
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E72.0 |
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Disorders of amino-acid transport |
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Excludes1 |
disorders of tryptophan metabolism (E70.5)
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E72.00 |
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Disorders of amino-acid transport, unspecified |
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E72.01 |
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Cystinuria |
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E72.02 |
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Hartnup's disease |
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E72.03 |
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Lowe's syndrome |
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UseAdditionalCode |
code for associated glaucoma (H42)
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E72.04 |
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Cystinosis |
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Fanconi (-de Toni) (-Debré) syndrome with cystinosis |
Excludes1 |
Fanconi (-de Toni) (-Debré) syndrome without cystinosis (E72.09)
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E72.09 |
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Other disorders of amino-acid transport |
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Fanconi (-de Toni) (-Debré) syndrome, unspecified |
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E72.1 |
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Disorders of sulfur-bearing amino-acid metabolism |
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E72.10 |
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Disorders of sulfur-bearing amino-acid metabolism, unspecified |
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E72.11 |
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Homocystinuria |
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Cystathionine synthase deficiency |
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E72.12 |
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Methylenetetrahydrofolate reductase deficiency |
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E72.19 |
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Other disorders of sulfur-bearing amino-acid metabolism |
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Cystathioninuria | Methioninemia | Sulfite oxidase deficiency |
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E72.2 |
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Disorders of urea cycle metabolism |
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Excludes1 |
disorders of ornithine metabolism (E72.4)
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E72.20 |
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Disorder of urea cycle metabolism, unspecified |
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Hyperammonemia |
Excludes1 |
hyperammonemia-hyperornithinemia-homocitrullinemia syndrome E72.4 transient hyperammonemia of newborn (P74.6)
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E72.21 |
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Argininemia |
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E72.22 |
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Arginosuccinic aciduria |
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E72.23 |
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Citrullinemia |
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E72.29 |
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Other disorders of urea cycle metabolism |
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E72.3 |
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Disorders of lysine and hydroxylysine metabolism |
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Glutaric aciduria NOS | Glutaric aciduria (type I) | Hydroxylysinemia | Hyperlysinemia |
Excludes1 |
glutaric aciduria type II (E71.313) Refsum's disease (G60.1) Zellweger syndrome (E71.510)
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E72.4 |
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Disorders of ornithine metabolism |
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Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome | Ornithinemia (types I, II) | Ornithine transcarbamylase deficiency |
Excludes1 |
hereditary choroidal dystrophy (H31.2-)
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E72.5 |
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Disorders of glycine metabolism |
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E72.50 |
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Disorder of glycine metabolism, unspecified |
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E72.51 |
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Non-ketotic hyperglycinemia |
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E72.52 |
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Trimethylaminuria |
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E72.53 |
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Primary hyperoxaluria |
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E72.59 |
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Other disorders of glycine metabolism |
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D-glycericacidemia | Hyperhydroxyprolinemia | Hyperprolinemia (types I, II) | Sarcosinemia |
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E72.8 |
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Other specified disorders of amino-acid metabolism |
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E72.81 |
 |
Disorders of gamma aminobutyric acid metabolism |
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4-hydroxybutyric aciduria | Disorders of GABA metabolism | GABA metabolic defect | GABA transaminase deficiency | GABA-T deficiency | Gamma-hydroxybutyric aciduria | SSADHD | Succinic semialdehyde dehydrogenase deficiency |
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E72.89 |
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Other specified disorders of amino-acid metabolism |
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Disorders of beta-amino-acid metabolism | Disorders of gamma-glutamyl cycle |
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E72.9 |
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Disorder of amino-acid metabolism, unspecified |
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