2012 ICD-9-CM Diagnosis Code 270.2
Other disturbances of aromatic amino-acid metabolism
- 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.
- WHAT: Ochronosis. Ochronosis: the pathologic accumulation of a blue-black pigment in the connective tissues of persons with alkaptonuria, a rare inborn error of metabolism. These persons lack the enzyme homogentisic acid oxidase, resulting in a buildup of homogentisic acid, a precursor of the pigment. WHY: The great majority of patients with ochronosis eventually develop an arthropathy clinically resembling degenerative joint disease. HOW: Ochronosis is diagnosed by the combination of pigmentation of the cartilage, the presence of homogentisic acid in the urine, and arthritis usually involving the knees, hips, lumbosacral spine, and shoulders. The slate blue-black pigmentation is most apparent in the sclera of the eyes, the external ears, and the tympanic membranes. The cerumen may also show a dark discoloration. The presence of homogentisic acid in the urine is determined by the dark color which occurs when the urine is alkalinized and by paper chromatography. REFS: Schumacher HR and Holdsworth DE: Ochronotic arthropathy I. Clinico-pathologic Studies. Semin Arthritis Rheum 6:207, 1977. DN19296-1.
- rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; 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); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
- Short description: Arom amin-acid metab NEC.
- ICD-9-CM 270.2 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
- You are viewing the 2012 version of ICD-9-CM 270.2.
- More recent version(s) of ICD-9-CM 270.2: 2013.
270.2 Alternative Terminology
Convert 270.2 to ICD-10-CM
ICD-9-CM Volume 2 Index entries containing back-references to 270.2: