raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:261831

Partial deletion of chromosome 17 syndrome

Synonyms: Partial monosomy of chromosome 17

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 deletion of chromosome 17 syndromePartial monosomy of chromosome 17
frSyndrome de délétion partielle du chromosome 17Monosomie partielle du chromosome 17
deChromosom 17-Deletion, partiellePartielle Monosomie des Chromosoms 17
esSíndrome de deleción parcial del cromosoma 17Monosomía parcial del cromosoma 17
itSindrome delezione parziale del cromosoma 17Monosomia parziale del cromosoma 17
nlPartiële deletie van chromosoom 17-syndroomPartiële monosomie van chromosoom 17
ptMonossomia parcial do cromossoma 17
plZespół częściowej delecji chromosomu 17Cześciowa monosomia chromosomu 17
csParciální delece chromozomu 17Parciální monozomie chromozomu 17
ukЧасткова делеція хромосоми 17Часткова моносомія хромосоми 17
zh17号染色体部分缺失17号染色体部分单体
tr17. kromozomun kısmi delesyonu17. kromozomun kısmi monozomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016879Evalidated
MONDO16879Evalidated
UMLSC5679661Evalidated

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