raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:202940

Anomaly of puberty or/and menstrual cycle of genetic origin

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
enAnomaly of puberty or/and menstrual cycle of genetic origin
frAnomalie du cycle menstruel et/ou de la puberté d'origine génétique
deGenetisch bedingte Störungen der Pubertät und/oder der Menstruation
esAnomalía de la pubertad y/o del ciclo menstrual de origen genético
itAnomalia della pubertà e/o del ciclo mestruale di origine genetica
nlAnomalie van puberteit of/en menstruatiecyclus van genetische oorsprong
ptAnomalia da puberdade e/ou do ciclo menstrual de origem genética
plZaburzenia dojrzewania lub(i) cyklu menstruacyjnego pochodzenia genetycznego
csAnomálie puberty nebo/a menstruačního cyklu genetického původu
ukГенетично обумовлені аномалії статевого дозрівання та/або менструального циклу
zh遗传性青春期或/和月经周期异常
trErgenlik anomalisi ve/veya genetik kökenli menstrüel döngü
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16072Evalidated
UMLSC5680789Evalidated

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 (5):

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