ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 — Syndromes with central nervous system anomalies as a major...
LD20.0 — Syndromes with cerebellar anomalies as a major feature
LD20.00 — Joubert syndrome

ICD-11 LD20.00 — Joubert syndrome

Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Syndromes with cerebellar anomalies as a major feature #8738
• Conditions with disorders of intellectual development as a relevant clinical feature #23735