ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2E — Syndromes with structural anomalies due to inborn errors of...
5C53.02 — Pyruvate dehydrogenase complex deficiency
ICD-11 5C53.02 — Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: