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
5C50.12 — 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 #5096
- Disorders of tyrosine metabolism #14413
- Genetic disorders of amino acid metabolism or transport affecting the skin #15906
- Focal palmoplantar keratodermas #15963
- 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