LD40.1

ICD-11 MMS 2026-01

Complete trisomy 13

Description

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.

Index terms

  • Complete trisomy 13
  • Patau syndrome
  • abnormal autosomes 13
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  • chromosome 13 trisomy
  • complete trisomy 13 syndrome
  • d1 trisomy
  • d1 trisomy syndrome
  • d>1< trisomy syndrome
  • patau
  • trisomy 13
  • trisomy 13 syndrome
  • Complete trisomy 13, meiotic non-disjunction
  • trisomy 13 syndrome, meiotic nondisjunction
  • trisomy 13, meiotic nondisjunction
  • Complete trisomy 13, translocation
  • partial trisomy 13 in patau syndrome
  • translocation trisomy 13
  • translocation trisomy 13 chromosome
  • translocation trisomy 13 syndrome

Inclusions

  • Patau syndrome

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD40.0 – Complete trisomy 21
  • LD40.2 – Complete trisomy 18
  • LD40.Y – Other specified complete trisomies of the autosomes
  • LD40.Z – Complete trisomies of the autosomes, unspecified

Foundation entity

Complete trisomy 13 – http://id.who.int/icd/entity/1435958084

Part of: LD40: Complete trisomies of the autosomes › 20: Developmental anomalies