ICD-11 classes
20 Developmental anomalies
LD90 — Conditions with disorders of intellectual development as a...
5C50.0 — Phenylketonuria
ICD-11 5C50.0 — Phenylketonuria
Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.
The diagnosis includes nothing.
The diagnosis excludes nothing.
Diagnosis with code 5C50.0 contains 5 clarifying diagnoses:
- 5C50.00 — Classical phenylketonuria
- 5C50.01 — Nonclassical phenylketonuria
- 5C50.02 — Embryofetopathy due to maternal phenylketonuria
- 5C50.0Y — Other specified phenylketonuria
- 5C50.0Z — Phenylketonuria, unspecified
The diagnosis is coded elsewhere: