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
LD20.01 — Pontocerebellar hypoplasia
ICD-11 LD20.01 — Pontocerebellar hypoplasia
Nonsyndromic pontocerebellar hypoplasias are a rare heterogeneous group of diseases characterised by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: