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2007 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Disorders Of Amino-Acid Transport And Metabolism 270.* > 2007 ICD-9-CM Diagnosis 270.1 Phenylketonuria (pku) This code may be outdated. View the most recent version of ICD-9-CM 270.1 A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). 270.1 is a specific code that can be used to specify a diagnosis 270.1 contains 11 index entries View the ICD-9-CM Volume 1 270.* hierarchy 270.1 also known as: Hyperphenylalaninemia Index entries containing 270.1: Deficiency, deficient dihydropteridine reductase 270.1 phenylalanine hydroxylase 270.1 Disease, diseased - see also Syndrome Følling's (phenylketonuria) 270.1 Disorder - see also Disease amino acid (metabolic) (see also Disturbance, metabolism, amino acid) 270.9 phenylketonuria 270.1 phenylpyruvic oligophrenia 270.1 metabolism NEC 277.9 phenylketonuria 270.1 Føllling's disease (phenylketonuria) 270.1 Hyperphenylalaninemia 270.1 Oligophrenia (see also Retardation, mental) 319 phenylpyruvic 270.1 Phenylketonuria (PKU) 270.1 Phenylpyruvicaciduria 270.1