ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD40 — Complete trisomies of the autosomes
LD40.1 — Complete trisomy 13

ICD-11 LD40.1 — Complete trisomy 13

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterised by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

It includes 1 item.

  • Patau syndrome

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

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