2022 ICD-10-CM Codes for Disorders of aromatic amino-acid metabolism (E70)

Clinical Terms for Disorders of aromatic amino-acid metabolism (E70)

Amino Acid Metabolism Disorders-. Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.

Phenylketonurias-. 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.

Albinism, Oculocutaneous-. Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Chediak-Higashi Syndrome-. A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

Hermanski-Pudlak Syndrome-. Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

    • ICD-10 Index

      • Endocrine, nutritional and metabolic diseases (E00–E90)

        • Metabolic disorders (E70-E88)

            • Disorders of aromatic amino-acid metabolism (E70)
            • E70 - Disorders of aromatic amino-acid metabolism NON-BILLABLE CODE
            • E70.0 - Classical phenylketonuria BILLABLE CODE
            • E70.1 - Other hyperphenylalaninemias BILLABLE CODE
            • E70.2 - Disorders of tyrosine metabolism NON-BILLABLE CODE
            • E70.20 - Disorder of tyrosine metabolism, unspecified BILLABLE CODE
            • E70.21 - Tyrosinemia BILLABLE CODE
            • E70.29 - Other disorders of tyrosine metabolism BILLABLE CODE
            • E70.3 - Albinism NON-BILLABLE CODE
            • E70.30 - Albinism, unspecified BILLABLE CODE
            • E70.31 - Ocular albinism NON-BILLABLE CODE
            • E70.310 - X-linked ocular albinism BILLABLE CODE
            • E70.311 - Autosomal recessive ocular albinism BILLABLE CODE
            • E70.318 - Other ocular albinism BILLABLE CODE
            • E70.319 - Ocular albinism, unspecified BILLABLE CODE
            • E70.32 - Oculocutaneous albinism NON-BILLABLE CODE
            • E70.320 - Tyrosinase negative oculocutaneous albinism BILLABLE CODE
            • E70.321 - Tyrosinase positive oculocutaneous albinism BILLABLE CODE
            • E70.328 - Other oculocutaneous albinism BILLABLE CODE
            • E70.329 - Oculocutaneous albinism, unspecified BILLABLE CODE
            • E70.33 - Albinism with hematologic abnormality NON-BILLABLE CODE
            • E70.330 - Chediak-Higashi syndrome BILLABLE CODE
            • E70.331 - Hermansky-Pudlak syndrome BILLABLE CODE
            • E70.338 - Other albinism with hematologic abnormality BILLABLE CODE
            • E70.339 - Albinism with hematologic abnormality, unspecified BILLABLE CODE
            • E70.39 - Other specified albinism BILLABLE CODE
            • E70.4 - Disorders of histidine metabolism NON-BILLABLE CODE
            • E70.40 - Disorders of histidine metabolism, unspecified BILLABLE CODE
            • E70.41 - Histidinemia BILLABLE CODE
            • E70.49 - Other disorders of histidine metabolism BILLABLE CODE
            • E70.5 - Disorders of tryptophan metabolism BILLABLE CODE
            • E70.8 - Other disorders of aromatic amino-acid metabolism NON-BILLABLE CODE
            • E70.81 - Aromatic L-amino acid decarboxylase deficiency BILLABLE CODE
            • E70.89 - Other disorders of aromatic amino-acid metabolism BILLABLE CODE
            • E70.9 - Disorder of aromatic amino-acid metabolism, unspecified BILLABLE CODE