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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5C51 Inborn errors of carbohydrate metabolism
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H01065 Pentosuria
H01135 Ribose 5-phosphate isomerase deficiency
H01189 Transaldolase deficiency
H02439 Short stature, developmental delay, congenital heart defect
H02013 Glycerol kinase deficiency
H00117 Primary hyperoxaluria
H00069 Glycogen storage disease
H00150 Danon disease
H01760 Hepatic glycogen storage disease
H01762 Muscle glycogen storage disease
H01939 Glycogen storage disease type I
H01940 Glycogen storage disease type II
H01941 Glycogen storage disease type III
H01942 Glycogen storage disease type IV
H01943 Glycogen storage disease type V
H01944 Glycogen storage disease type VI
H01945 Glycogen storage disease type VII
H01946 Glycogen storage disease type XI
H01947 Fanconi-Bickel syndrome
H01948 Glycogen storage disease type IX
H01949 Glycogen storage disease type 0b
H01950 Glycogen storage disease type 0a
H01951 Glycogen storage disease type X
H01952 Glycogen storage disease type XII
H01953 Glycogen storage disease type XIII
H01954 Glycogen storage disease type XIV
H01955 Glycogen storage disease type XV
H01956 Glycogen storage disease of heart
H00070 Galactosemia
H02008 Galactose-1P uridylyltransferase deficiency
H02009 Galactokinase deficiency
H02010 Galactose epimerase deficiency
H00071 Hereditary fructose intolerance
H00114 Fructose-1,6-bisphosphatase deficiency
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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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