ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F — Syndromes with multiple structural anomalies, without...
LD2F.1 — Syndromes with multiple structural anomalies, not of...
LD2H.3 — Waardenburg-Shah syndrome
ICD-11 LD2H.3 — Waardenburg-Shah syndrome
In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Syndromic genetic deafness #23463