ICD-11 classes
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
Genetic disorders of amino acid metabolism or transport...
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: