ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 — Inborn errors of amino acid or other organic acid metabolism
5C50.1 — Disorders of tyrosine metabolism
5C50.10 — Alkaptonuria
ICD-11 5C50.10 — Alkaptonuria
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: