01 Certain infectious or parasitic diseases
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02 Neoplasms
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03 Diseases of the blood or blood-forming organs
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04 Diseases of the immune system
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05 Endocrine, nutritional or metabolic diseases
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Endocrine diseases
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Nutritional disorders
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Metabolic disorders
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Inborn errors of metabolism
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5C50 Inborn errors of amino acid or other organic acid metabolism
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H00167 Phenylketonuria
H02419 Glycine encephalopathy with normal serum glycine
H00163 Alkaptonuria
H00165 Tyrosinemia
H00171 Histidinemia
H01233 Urocanase deficiency
H01583 Hydroxykynureninuria
H02545 Hypertryptophanemia
H00188 Hyperlysinemia
H01242 Saccharopinuria
H02644 Alpha-aminoadipic and alpha-ketoadipic aciduria
H02313 5-Oxoprolinase deficiency
H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency
H01082 Phosphoserine aminotransferase deficiency
H02116 Phosphoserine phosphatase deficiency
H01003 Dimethylglycine dehydrogenase deficiency
H00191 Nonketotic hyperglycinemia
H02657 Sarcosinemia
H02380 D-glyceric aciduria
H00190 Hyperprolinemia
H00187 Ornithine transcarbamylase deficiency
H00189 Ornithinaemia
H01398 Primary hyperammonemia (Urea cycle disorders)
H01400 Secondary hyperammonemia
H01028 Argininosuccinic aciduria
H00164 Carbamoyl phosphate synthetase I deficiency
H00186 Hyperargininemia
H00185 Citrullinemia
H01032 N-acetylglutamate synthase deficiency
H01268 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
H00182 Cystathioninuria
H00183 Homocystinuria
H00184 Hypermethioninemia
H01237 Sulfite oxidase deficiency
H01285 Methylcobalamin deficiency type G
H02311 Molybdenum cofactor deficiency
H02485 Extraoral halitosis due to MTO deficiency
H00172 Maple syrup urine disease
H01076 Beta-ketothiolase deficiency
H01279 Isobutyryl-CoA dehydrogenase deficiency
H02136 Branched-chain ketoacid dehydrogenase kinase deficiency
H02285 Methylmalonate semialdehyde dehydrogenase deficiency
H02546 Hypervalinemia and hyperleucine-isoleucinemia
H01349 Methacrylic aciduria
H00173 Isovaleric acidemia
H00174 Methylmalonic aciduria
H00175 Propionic acidemia
H00180 Holocarboxylase synthetase deficiency
H00181 3-Methylcrotonylglycinuria
H00375 SBCAD deficiency
H00754 3-Methylglutaconic aciduria
H01182 Biotinidase deficiency
H02221 Methylmalonic aciduria and homocystinuria
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type
H00074 Canavan disease
H00178 Glutaric acidemia
H00835 Succinic semialdehyde dehydrogenase deficiency
H01146 Aminoacylase 1 deficiency
H01225 D-2-hydroxyglutaric aciduria
H01280 L-2-hydroxyglutaric aciduria
H01283 Malonyl-CoA decarboxylase deficiency
H02304 Combined D-2- and L-2-hydroxyglutaric aciduria
H02109 Combined malonic and methylmalonic aciduria
H01119 Prolidase deficiency
H01234 Trimethylaminuria
H00923 Congenital systemic glutamine deficiency
H01386 Asparagine synthetase deficiency
H02312 Glutathione synthetase deficiency
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5C51 Inborn errors of carbohydrate metabolism
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5C52 Inborn errors of lipid metabolism
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5C53 Inborn errors of energy metabolism
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5C54 Inborn errors of glycosylation or other specified protein modification
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5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism
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5C56 Lysosomal diseases
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5C57 Peroxisomal diseases
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5C58 Inborn errors of porphyrin or heme metabolism
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5C59 Inborn errors of neurotransmitter metabolism
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5C5A Alpha-1-antitrypsin deficiency
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5C5Y Other specified inborn errors of metabolism
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5C5Z Inborn errors of metabolism, unspecified
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Disorders of metabolite absorption or transport
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Disorders of fluid, electrolyte or acid-base balance
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Disorders of lipoprotein metabolism or certain specified lipidaemias
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5C90 Metabolic or transporter liver disease
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Other metabolic disorders
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5D2Z Metabolic disorders, unspecified
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Postprocedural endocrine or metabolic disorders
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06 Mental, behavioural or neurodevelopmental disorders
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07 Sleep-wake disorders
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08 Diseases of the nervous system
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09 Diseases of the visual system
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10 Diseases of the ear or mastoid process
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11 Diseases of the circulatory system
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12 Diseases of the respiratory system
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13 Diseases of the digestive system
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14 Diseases of the skin
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15 Diseases of the musculoskeletal system or connective tissue
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16 Diseases of the genitourinary system
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17 Conditions related to sexual health
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18 Pregnancy, childbirth or the puerperium
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19 Certain conditions originating in the perinatal period
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20 Developmental anomalies
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21 Symptoms, signs or clinical findings, not elsewhere classified
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22 Injury, poisoning or certain other consequences of external causes
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25 Codes for special purposes
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