raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:263749

X and Y chromosomal anomaly syndrome

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
enX and Y chromosomal anomaly syndrome
frSyndrome d'anomalie des chromosomes x et y
deChromosom Y und X-Anomalie
esSíndrome de anomalía cromosómica X e Y
itSindrome anomalia dei cromosomi X e Y
nlAnomalie van X- en Y-chromosoom-syndroom
ptAnomalia cromossómica X e Y
plZespół aberracji chromosomów X i Y
csAnomálie X a Y chromozomu
ukХромосомна аномалія X та Y хромосом
zhX和Y染色体异常
trX ve Y kromozom anomalisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO17006Evalidated
UMLSC5680725Evalidated

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 (3):

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