raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262672

Partial duplication of chromosome 16 syndrome

Synonyms: Partial trisomy of chromosome 16

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPartial duplication of chromosome 16 syndromePartial trisomy of chromosome 16
frSyndrome de duplication partielle du chromosome 16Trisomie partielle du chromosome 16
deChromosom 16-Duplikation, partiellePartielle Trisomie des Chromosoms 16
esSíndrome de duplicación parcial del cromosoma 16Trisomía parcial del cromosoma 16
itSindrome duplicazione parziale del cromosoma 16Trisomia parziale del cromosoma 16
nlPartiële duplicatie van chromosoom 16-syndroomPartiële trisomie van chromosoom 16
ptTrissomia parcial do cromossoma 16
plZespół częściowej duplikacji chromosomu 16Częściowa trisomia chromosomu 16
csParciální duplikace chromozomu 16Parciální trizomie chromozomu 16
ukЧасткова дуплікація хромосоми 16Часткова трисомія хромосоми 16
zh16号染色体部分重复16号染色体部分三体
tr16. kromozomun kısmi duplikasyonu16. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016934Evalidated
MONDO16934Evalidated
UMLSC4518504Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card