Disorders of aromatic amino-acid metabolism (E70)
ICD-10 Index
Endocrine, nutritional and metabolic diseases (E00–E90)
Metabolic disorders (E70-E88)
- 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
Disorders of aromatic amino-acid metabolism (E70)
Clinical Information for Disorders of aromatic amino-acid metabolism (E70)
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
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.
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
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.
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Waardenburg Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Waardenburg Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Waardenburg Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
