ICD-11 classes
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC20 — Genetic disorders of keratinisation
EC20.3 — Hereditary palmoplantar keratodermas
EC20.31 — Focal palmoplantar keratodermas
5C50.12 — Tyrosinaemia type 2
ICD-11 5C50.12 — Tyrosinaemia type 2
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Disorders of tyrosine metabolism #4718
- Disorders of tyrosine metabolism #5096
- Disorders of tyrosine metabolism #14413
- Genetic disorders of amino acid metabolism or transport affecting the skin #15906
- Genetic disorders of amino acid metabolism or transport affecting the skin #16070
- Focal palmoplantar keratodermas #16237
- Conditions with disorders of intellectual development as a relevant clinical feature #23735