LD40

ICD-11 MMS 2026-01

Complete trisomies of the autosomes

Description

Any disease caused by the presence of one extra autosome, for a total of three. Confirmation is through observation of a supernumerary autosome by karyotyping.

Exclusions from above levels

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

Child codes

  • LD40.0 – Complete trisomy 21
  • LD40.1 – Complete trisomy 13
  • LD40.2 – Complete trisomy 18
  • LD40.Y – Other specified complete trisomies of the autosomes
  • LD40.Z – Complete trisomies of the autosomes, unspecified

Sibling codes

  • LD41 – Duplications of the autosomes
  • LD42 – Polyploidies
  • LD43 – Complete monosomies of the autosomes
  • LD44 – Deletions of the autosomes
  • LD45 – Uniparental disomies
  • LD46 – Imprinting errors
  • LD47 – Balanced rearrangements or structural rearrangements
  • LD7Y – Other specified chromosomal anomalies, excluding gene mutations
  • LD7Z – Chromosomal anomalies, excluding gene mutations, unspecified

Foundation entity

Complete trisomies of the autosomes – http://id.who.int/icd/entity/948835301

Part of: 20: Developmental anomalies