Specific code 2014 ICD-9-CM Diagnosis Code 270.2
Other disturbances of aromatic amino-acid metabolism
  • Billable Code
  • Short description: Arom amin-acid metab NEC.
  • ICD-9-CM 270.2 will be replaced by an equivalent ICD-10-CM code (or codes) when the United States transitions from ICD-9-CM to ICD-10-CM on October 1, 2015.
  • ICD-9-CM 270.2 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
Disease Synonyms
  • 4-Hydroxyphenylpyruvate dioxygenase deficiency
  • Aland eye disease and ocular albinism
  • Albinism
  • Albinism w hematologic abnormality
  • Albinism with hematologic disorder
  • Albinism-deafness syndrome of Tietz
  • Albinoidism
  • Albinotic fundus
  • Alcaptonuric ochronosis
  • Alkaptonuria
  • Aromatic amino acid metabolism disorder
  • Aromatic amino acid, metabolism disturbances
  • Autosomal dominant oculocutaneous albinism
  • Autosomal recessive ocular albinism
  • Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
  • Brown oculocutaneous albinism
  • Disorder of aromatic amino acid metabolism
  • Disorder of tryptophan metabolism
  • Disorder of tyrosine metabolism
  • Exogenous ochronosis
  • Fumarylacetoacetase deficiency, acute type
  • Fumarylacetoacetase deficiency, chronic type
  • Glutaryl-CoA oxidase deficiency
  • Hereditary hypertyrosinemia
  • Hermansky Pudlak syndrome
  • Hermansky-Pudlak syndrome
  • Homogentisate 1,2-dioxygenase deficiency
  • Hydroxykynureninuria
  • Hypertyrosinemia
  • Hypertyrosinemia, Richner Hanhart type
  • Hypertyrosinemia, Richner-Hanhart type
  • Hypopigmentation-immunodeficiency disease
  • Indicanuria
  • Klein-Waardenberg's syndrome
  • Kynureninase deficiency
  • Minimal pigment oculocutaneous albinism
  • Ochronosis
  • Ochronosis due to homogentisate 1,2-dioxygenase deficiency
  • Ochronosis due to hydroquinone
  • Ochronotic arthritis
  • Ocular albinism
  • Ocular albinism (eye condition)
  • Ocular albinism, type I
  • Ocular albinism, type II
  • Ocular albinism-lentigines-deafness syndrome
  • Oculocutaneous albinism
  • Oculocutaneous albinoidism
  • Partial albinism
  • Punctate oculocutaneous albinoidism
  • Rufous albinism
  • Temperature-sensitive oculocutaneous albinism
  • Tryptophan metabolism disorder
  • Tryptophanuria
  • Tyrosinase negative oculocutaneous albinism
  • Tyrosinase positive oculocutaneous albinism
  • Tyrosinase-negative oculocutaneous albinism
  • Tyrosinase-positive oculocutaneous albinism
  • Tyrosine metabolism disorder
  • Tyrosinemia
  • Tyrosinemia type 1
  • Tyrosinemia type 2
  • Tyrosinemia type 3
  • Tyrosinemia type I
  • Tyrosinemia type III
  • Tyrosinemia, type 3
  • Tyrosinosis
  • Tyrosinuria
  • Waardenburgs syndrome
  • Waardenburg's syndrome
  • Waardenburgs syndrome.
  • Woolf's syndrome
  • X linked ocular albinism
  • Yellow mutant oculocutaneous albinism
  • Ziprkowski-Margolis syndrome
Clinical Information
  • 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.
  • 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.
  • 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.
270.2 Excludes
  • vitamin B6-deficiency syndrome (266.1)
Applies To
  • Albinism
  • Alkaptonuria
  • Alkaptonuric ochronosis
  • Disturbances of metabolism of tyrosine and tryptophan
  • Homogentisic acid defects
  • Hydroxykynureninuria
  • Hypertyrosinemia
  • Indicanuria
  • Kynureninase defects
  • Oasthouse urine disease
  • Ochronosis
  • Tyrosinosis
  • Tyrosinuria
  • Waardenburg syndrome
Convert to ICD-10-CM: 270.2 converts approximately to:
  • 2014 ICD-10-CM E70.21 Tyrosinemia
    Or:
  • 2014 ICD-10-CM E70.29 Other disorders of tyrosine metabolism
    Or:
  • 2014 ICD-10-CM E70.30 Albinism, unspecified
    Or:
  • 2014 ICD-10-CM E70.5 Disorders of tryptophan metabolism
    Or:
  • 2014 ICD-10-CM E70.8 Other disorders of aromatic amino-acid metabolism
ICD-9-CM Volume 2 Index entries containing back-references to 270.2:
  • Achromia
    • congenital 270.2
  • Albinism, albino (choroid) (cutaneous) (eye) (generalized) (isolated) (ocular) (oculocutaneous) (partial) 270.2
  • Albinismus 270.2
  • Alcaptonuria 270.2
  • Alkaptonuria 270.2
  • Defect, defective 759.9
    • homogentisic acid 270.2
    • kynureninase 270.2
  • Deficiency, deficient
    • homogentisic acid oxidase 270.2
  • Disease, diseased - see also Syndrome
    • oasthouse, urine 270.2
    • Smith-Strang (oasthouse urine) 270.2
  • Disorder - see also Disease
    • amino acid (metabolic) (see also Disturbance, metabolism, amino acid) 270.9
      • albinism 270.2
      • alkaptonuria 270.2
      • argininosuccinicaciduria 270.6
      • beta-amino-isobutyricaciduria 277.2
      • cystathioninuria 270.4
      • cystinosis 270.0
      • cystinuria 270.0
      • glycinuria 270.0
      • homocystinuria 270.4
      • imidazole 270.5
      • maple syrup (urine) disease 270.3
      • neonatal, transitory 775.89
      • oasthouse urine disease 270.2
      • ochronosis 270.2
      • phenylketonuria 270.1
      • phenylpyruvic oligophrenia 270.1
      • purine NEC 277.2
      • pyrimidine NEC 277.2
      • renal transport NEC 270.0
      • specified type NEC 270.8
      • transport NEC 270.0
      • xanthinuria 277.2
  • Disturbance - see also Disease
  • Hydroxykynureninuria 270.2
  • Hypertyrosinemia 270.2
  • Indicanuria 270.2
  • Klein-Waardenburg syndrome (ptosis-epicanthus) 270.2
  • Leukasmus 270.2
  • Mende's syndrome (ptosis-epicanthus) 270.2
  • Oasthouse urine disease 270.2
  • Ochronosis (alkaptonuric) (congenital) (endogenous) 270.2
    • with chloasma of eyelid 270.2
  • Osteoarthrosis (degenerative) (hypertrophic) (rheumatoid) 715.9
    • Deformans alkaptonurica 270.2
  • Ptosis (adiposa) 374.30
    • epicanthus syndrome 270.2
  • Smith-Strang disease (oasthouse urine) 270.2
  • Syndrome - see also Disease
    • embryonic fixation 270.2
    • Klein-Waardenburg (ptosis-epicanthus) 270.2
    • Mende's (ptosis-epicanthus) 270.2
    • ptosis-epicanthus 270.2
    • van der Hoeve-Halbertsma-Waardenburg (ptosis-epicanthus) 270.2
    • van der Hoeve-Waarderburg-Gualdi (ptosis-epicanthus) 270.2
    • Waardenburg-Klein (ptosis epicanthus) 270.2
  • Tyrosinemia 270.2
  • Tyrosinosis (Medes) (Sakai) 270.2
  • Tyrosinuria 270.2
  • Tyrosyluria 270.2
  • van der Hoeve-Halbertsma-Waardenburg syndrome (ptosis-epicanthus) 270.2
  • van der Hoeve-Waardenburg-Gualdi syndrome (ptosis-epicanthus) 270.2
  • Waardenburg's syndrome 756.89
    • meaning ptosis-epicanthus 270.2
  • Waardenburg-Klein syndrome (ptosis-epicanthus) 270.2
ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. ICD-9-CM 270.2 is one of thousands of ICD-9-CM codes used in healthcare. Although ICD-9-CM and CPT codes are largely numeric, they differ in that CPT codes describe medical procedures and services. Can't find a code? Start at the root of ICD-9-CM, check the 2014 ICD-9-CM Index or use the search engine at the top of this page to lookup any code.